Revista de Neurologia

Online ISSN: 0210-0010
Publications
Article
Bioelectrical behaviour was studied in a group of low birth weight children. To evaluate whether the characteristics of the waves of the brain potentials in these children, who weighed less than 1500 g at birth and experienced anomalous circumstances and events during their perinatal period, would help reach an early diagnosis of the possible developmental disorders they might suffer later on in life. Both visual and auditory cerebral evoked potentials were recorded in a group of children born underweight and the results were compared with the findings from another group of healthy children who were born in normal physiological conditions and were apparently free of any kind of pathology. In the waves and locations that were examined, the problem group displayed latencies that were longer than those of the control group; in contrast, no statistically significant differences were found in the amplitude, regardless of the location. Low gestational age and lower weight made latencies longer, but no relationship was found between latencies and the other perinatal features that were studied. Children with low weight at birth have slower wave latencies than normal children. This slowing, which is inversely proportional to the weight and weeks of gestation, is considered to be an anomalous sign that could be related to brain immaturity, delayed development or to disorders affecting myelination. Moreover, the amplitude, which has received far less attention from researchers, is usually shorter in these processes, although in our study we found no differences with the group of healthy children--only very slightly in the P300, in the weeks and the weight, and the N100 only in one location with respect to weight. Since these children usually have developmental disorders, the use of evoked potentials could be a very useful tool in their detection and ensuing therapy.
 
Article
The aim of this study is to analyse different aspects of the psychomotor development, during the first two years of the life, of 56 very low birth weight newborns (less of 1.501 g) that had completed a follow-up program. Of the results we have got, the most important are the following: 4 observations (7%) presented severe sequelae motor disability in a tetraparesis with sensorial defects in 3 of them and behavior disturbance (psychosis) with visual defect in the rest. Three observations (5.3%) presented moderate sequelae: all of them with motor disability (hemi- or tetraparesis) and cognitive deficiency. Me have to point out that in the two groups described above, the pathological signs were detected before the age of 6 months. Nine observations (16%) presented mild sequelae dominating language delayed (7% of whole sample) and transient abnormalities in 7 of them (12.5%). In the subgroup of small for gestational age newborns (21 observations), 28.5% presented mild sequelae, 14% transient abnormalities and no one presented severe or moderate sequelae. Although a long term follow-up is necessary in order to detect learning, cognitive, or behavior disturbances, that can just become evident later, we think that the attention of the deviations of the normality during the two first years of the life, would warn about possible future disturbances.
 
Article
Introduction: The aetiology of epilepsy is an important decisive factor in its treatment and prognosis. Diagnostic and therapeutic advances suggest that the causal distribution, treatment and prognosis of the population with epilepsy may have undergone some modification. Aim: To describe the distribution of syndromes, aetiology and pharmacological treatment in patients with epilepsy. Patients and methods: We conducted a cross-sectional descriptive study of patients with epilepsy who were treated consecutively in our epilepsy department. Demographic data were collected, together with information about syndromes, aetiology and pharmacological treatment at the time of eligibility. The data were analysed jointly and by age groups. Results: Altogether 1,557 patients were included, 54% of them males. Seventy-three per cent of the sample had focal epilepsy, which was secondary to a structural lesion in 56% of patients. Generalised epilepsies accounted for 20%. Five per cent were unclassifiable. By ages, vascular causation predominated in practically all the groups and its prevalence increased with age. The most commonly used antiepileptic drugs were valproic acid (29%), levetiracetam (27%) and carbamazepine (20%). Seventy per cent of the generalised epilepsies and 57% of the focal ones were on monotherapy treatment. Conclusions: The prevalence by age groups was similar to that reported in developed countries, although a lower prevalence of cryptogenic epilepsies was observed. More than 60% of patients followed monotherapy and valproic acid was the most widely used.
 
Article
Attention deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder in the adulthood. It's diagnosis is a complex process in which a screening tool can be useful. To analyze the six-question Adult ADHD Self-Report Scale (ASRS v. 1.1) validity in an outpatient clinical context. We performed a case-control study, involving 90 patients with ADHD and 90 controls without ADHD. They were outpatient treated in a program for adults ADHD in a hospital. The clinical disorder diagnosis was measured by the Conners Adult ADHD Diagnostic Interview. We analyzed the test accuracy for different ways to score and cut-offs. We found the best psychometric characteristics of ASRS v. 1.1 using a quantitative ranking between 0 and 24 points, setting as cut-off 12 points. We observed a sensitivity of 96.7%, specificity 91.1%, positive predictive value 91.6% negative predictive value 96.5%, kappa index 0.88 and area under the curve 0.94 (odds ratio = 297.3; 95% confidence interval = 76.2-1,159). The ASRS is a valid and useful tool for the adult ADHD screening in the clinical context.
 
Article
We analysed the records of the individuals who were attended because of dizziness or vertigo in the vestibular sector, with the aim of describing the epidemiological clinical profile of a group of patients with such symptoms. 1300 patients were systematically evaluated according to our neuro otological examination protocol. Diagnoses were ordered, according to the international classification reported by Drachman and later modified by Bahlo, in four categories: 1. Vertigo, 2. Instability, 3. Pre syncope and 4. Miscellaneous. Each of these classes was organised according to the topography of the lesion and these were in turn grouped by aetiologies (viral, vascular, tumoural, demyelinating, post traumatic, idiopathic, autoimmune, etc.). The data were stored and analysed in a computer database, Epi info 6.02 (OMS 1994), which was especially adapted by the researchers for the purpose. 63.1% were women. The average age was 55.5 years old (SD: 17.5, interval: 4 93). Vertigo was diagnosed in 68.9%, instability was found in 12.4%, 1.8% presented syncope and miscellaneous disorders occurred in 16.9% (of these, 64.1% had disorders of the central integrator and 16.4% were of a psychogenic origin). Of the 1300 patients, 896 presented vertigo; the positional type was seen in 54%, sustained in 6.5%, recurrent in 27.7% and 11.8% were found to have the otolithic type. The relevance of the epidemiological work based on clinical evaluation and the thorough neuro otological examination in our medium must be highlighted. These findings were similar to those reported in the international literature in more delimited series.
 
Paciente III.46 (9 años). Maniobra de Gowers al levantarse del suelo. Se aprecia pseudohipertrofia de gemelos y escápula alada.
Paciente IV.31 (18 años). Hiperlordosis lumbar con protrusión abdominal y debilidad de la musculatura del cuello que le impide mantener erguida la cabeza. Grave atrofia en musculatura de piernas y brazos, con retracción aquílea y pie equinovaro.
Biopsia muscular del paciente III.46. Fibras de tamaños variables y formas redondeadas. Extensos focos de fibras regenerativas y degenerativas. Llamativa fibrosis endo y perimisial (HE x 100).
Biopsia muscular del paciente III.51. Aspecto distrófico con fibras de tamaño y formas variables, pequeño foco de fibras regenerativas. Presencia de fibras hipercontraídas salpicadas (HE x 200).
Article
Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.
 
Article
The term CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) refers to a hereditary systemic microangiopathy caused by mutations of the NOTCH3 gene located on chromosome 19. It typically presents in young people with migraine attacks and recurrent ischemic strokes, leading to a progressive subcortical cognitive decline over several years. To describe the symptoms of onset and clinical manifestations in 11 CADASIL patients diagnosed by genetic testing or skin biopsy. Detailed physical and neurological examinations, vital signs, electrocardiogram, laboratory investigations (including glucose levels, lipid profile, coagulation studies and homocysteine levels, among others), brain MRI, Mini-Mental Test and Trail Making Test A and B were done. In addition, some patients with complaints related to depressive symptoms or impaired cognition received the Montgomery and Åsberg Depression Rating Scale and a battery of neuropsychological examinations (the Stroop Color and Word Test and the V-ADAS-cog that includes the Maze Test). Our patients presented with a clinical course and a radiological pattern similar to those described previously in the literature. We found a delay in the detection of this pathology and previous diagnostic errors in some patients and their relatives. Multiple sclerosis was the most frequent misdiagnosis. The course of the disease was barely modified by therapeutic interventions introduced to control the progression of the symptoms. Cognitive complaints in patients with advanced stages were common and the executive abilities were found to be impaired in many cases.
 
Article
The BASC is a multidimensional approach to evaluate the child behavior and it has been validated on the diagnosis of ADD/+H in North American children. Validating BASC-PRS 6-11 on the diagnosis of ADD/+H. We selected 25 male DSM IV-ADD/+H (combined type), 6 to 11-years-old children, and 25 age, gender, and socioeconomic status matched controls. Mean ages of both groups 8.16 (1.5), schooling of controls 2.64 (1.4), and cases 2.6 (1.9). On the Clinical Scale ADD/+H children had significant (Anova p < 0.01) higher scores in hyperactivity, conduct problems, and attention problems. On the Adaptive Scale only significant differences on social skills and leadership were found, with lower score in the ADD/+H group. A crosstab analysis between group code and each rating variable transformed into categorical (0 and 1) variable, cut-off point = 85 percentile, found that the case children's parents qualified as clinically in higher risk the variables attention problems (OR = 24.4; 95% CI = 4.5-130), conduct problems (OR = 9.0; 95% CI = 1.7-46.9) and hyperactivity (OR = 6.8; 95% CI = 1.6-28.5) (p < 0.01). A discriminant analysis selected attention problems as discriminant function (p < 0.0001). Classification capability 84% for each group. Our results proved the validity of the BASC-PRS 6-11 questionnaire for the screening diagnosis of ADD/+H children in a Spanish speaking population.
 
Article
Intracranial venous thrombosis (IVT) is a rare condition at the paediatric age, with a wide variety of clinical features and causations. To describe the etiopathogenic factors, the presenting symptoms, diagnosis, treatment and progress of the cases of IVT diagnosed at the Hospital 12 de Octubre. The descriptive retrospective study involved reviewing the records of patients who were admitted to hospital between 1989 and 2005, with ages ranging between 1 month and 16 years. Those who had been diagnosed as having IVT, confirmed by neuroimaging, were selected for the study. A review of their patient records was then carried out and associated etiopathogenic factors, clinical features and neuroimaging findings, treatment and progress were analysed. Eleven patients fulfilled clinical and radiological eligibility criteria. Most of them presented precipitating factors of an infectious origin (45%). The most frequent presenting symptoms were headache and diminished level of consciousness (45% for each case). The superior longitudinal was the most commonly affected venous sinus (72% of cases). Thrombophilic alterations were found in 27% of the patients. Magnetic resonance imaging of the brain was the most cost-effective diagnostic test. No haemorrhagic complications were recorded in patients receiving anti-clotting therapy. In most cases progress was favourable. Improved diagnostic methods allow IVT to be detected increasingly more often at the paediatric age. Anti-clotting therapy in the acute phase proved to be safe and effective in this series, although further studies are needed with patients at this age to confirm this finding.
 
Article
We consider in this paper the applicability of the FAB in Spain, a battery at bedside devised to assess frontal lobe function and able to identify a dysexecutive syndrome, which takes few minutes to administer, and useful for neuropsychological diagnosis in diseases involving frontal lobe dysfunctions. We study dual application of FAB and Folstein s MMSE to 195 subjects belonging to 11 subgroups (controls, neurodegenerative disorders and psychiatric conditions), and they were related to: cortical/subcortical normality, cortical/subcortical cognitive impairment, or cortical/subcortical dementia. mean, standard deviation, U test (p< 0.05) and Pearson s correlation index. Data suggest FAB reflects in Spanish environment the reality of frontosubcortical deterioration in studied groups. FAB and MMSE showed a variable grade of positive lineal correlation in different diseases.
 
Article
PKU is an autosomal recessive disorder. There is a broad spectrum phenotype which depends mainly on residual enzymatic activity and also on other factors such as modifying genes and non-genetic factors. This fact makes us consider that a multidisciplinary study of these patients is necessary to improve knowledge of the condition. To establish phenotype-genotype correlation and classify nine new mutations according to severity. We evaluated the clinical data obtained from a multidisciplinary trial of 11 patients with PKU/HPA who presented with nine new mutations (P275S, P279fsdelC, V388delTG, N61/I62/T63fsdel5bp, P281S, P362T, H1OOR, I164V and Y168H) identified during a molecular study of the PAH gene done in Catalonia (Spain). In our patients the genotype is correlated with the biochemical phenotype whereas the cognitive phenotype depends on determining factors such as early diagnosis and diet. Therefore, although PKU may be considered to be a complex characteristic, the mutations in the PAH gene are the main determining factor of the metabolic phenotype of PKU. A multidisciplinary study is the best way to understand and control these patients.
 
Article
Behavioral Assessment System for Children (BASC) has demonstrated to be useful in the diagnosis of Attention Deficit Disorder (ADD). A randomized sample of 120 children, 6 to 11-year-old, participants from the school of the city of Medellín, Colombia, was selected. The sample was stratified by sex and two socioeconomic status (SES). Parents were asked to answer the BASC Parent Rating Scale (PRS) 6-11, authorized Spanish version. Cronbach's alpha coefficient was 0.85 for the clinical scale (9 items). It was 0.75 for the Adaptive Scale (3 items). A scale designed with 4 items to assess ADD (hyperactivity, attention problems, aggression, and conduct problems) showed an alpha coefficient of 0.82. Male children scored significantly higher than female (ANOVA, p < 0.05) in hyperactivity, conduct problems, and atypicality. Children from low SES scored significantly higher than children of high SES on the most of clinical measures (p < 0.05) and lower on the three adaptive measures. Cluster analysis selecting six clusters found a prevalence of 61.6% for normal male children. In the total sample there were a 4% at risk of DDA type II (inattentive) and 14% at risk of DDA type I (combined). BASC PRS (6-11) showed reliability and validity to assessing the behavior in Spanish speaking Colombian children.
 
Article
The widespread application of magnetic resonance imaging (MRI) has brought with it an increase in the detection of alterations in the white matter of the central nervous system. AIM. To investigate the evolution of patients with no previous neurological symptoms, but in whom MRI findings are highly suggestive of multiple sclerosis (MS). We conducted a descriptive study of 11 patients with MRI findings suggesting MS. A longitudinal follow-up was used to determine the radiological progression and conversion into an isolated neurological syndrome and clinically defined MS. Eleven patients (seven females and four males) were identified, with a mean age of 36 years (range: 28-48 years), who had been submitted to an MRI scan due to headache (n = 2), radiculalgia (n = 3), traumatic brain injury (n = 1), syncope (n = 1), peripheral nervous pathology (n = 1) and epileptic seizures (n = 1). The mean number of Barkhof-Tintore criteria in the initial MRI scan was three. The oligoclonal band study was positive in six cases and in nine patients visual evoked potentials were performed (three pathological). The mean follow-up time was 2.9 years (range: 2 months-11.9 years). The mean amount of time elapsed between the first and the second MRI scan was 2.03 years. A radiological progression was identified in seven cases (five of them with gadolinium uptake). Five patients became cases of isolated neurological syndrome, with a mean amount of time since the initial MRI scan of 4.13 years. Of these, three patients presented conversion into clinically defined MS, two into the relapsing-remitting form (after an average of 8.54 years since the initial MRI scan) and another into the primary progressive form. The identification of incidental lesions that are highly suggestive of MS could help to constitute a group of subjects with an increased risk of developing MS.
 
Article
It is a well-known fact that a relatively high proportion of patients with essential tremor are resistant to a number of pharmaceuticals currently used to treat the condition. To assess the effectiveness and safety of levetiracetam (LEV) in patients who displayed little or no response or intolerable side effects under treatment with beta blockers or primidone, or who presented contraindications against beginning such treatments. We conducted an open 11-week pilot study in patients with the characteristics described above. The main response measurements were based on the Fahn-Tolosa-Marin (FTM) tremor rating scale, accelerometric variables and side effects. The maximum dose of LEV was 3000 mg, which was reached by patients who did not benefit from lower doses, after one week's treatment with 1000 mg and four weeks' treatment with 2000 mg. RESULTS. The sample consisted of 14 patients with essential tremor, with a mean age of 70.08 (7.99) years and an average clinical history of 11.5 years. Although by the end of the study small decreases were observed on the FTM rating scale and in the amplitude of the tremor, none of the differences were significant. Six patients dropped out of the study because of a lack of effectiveness or to side effects. LEV did not produce any statistically significant modifications in any of the variables that were monitored in this group of patients.
 
Article
Attention deficit hyperactivity disorder (ADHD) gives rise to behavioural and neuropsychological alterations. The purpose of this study is to compare the behavioural and neuropsychological skills of 6 to 11-year-old children of both sexes, who have been diagnosed with ADHD, with that of a control group. From a total of 1200 schoolchildren, whose parents and teachers answered a brief ADHD screening survey, we selected 112 participants who were then submitted to a psychological clinical interview and a neurological examination in order to assign them to one of three groups: combined-type ADHD, inattentive ADHD and a control group. Behaviour was assessed by applying the Conners' Rating Scales and the multidimensional behaviour survey. Cognitive capacities were assessed by applying a neuropsychological battery for attention, memory, visuomotor and verbal skills, and executive functions. Groups were compared by means of a Kruskal-Wallis non-parametric univariate analysis of variance. In the case of pairs of groups, the Mann-Whitney U test was employed. The behavioural scales showed greater alterations in the case groups, with more problems in the combined-type ADHD group. Neuropsychologically, significantly lower performances were observed in the ADHD groups in sustained attention, executive function, semantic and phonological fluency tests. Behavioural disorders are the most apparent in ADHD. The neuropsychological alterations that were found were similar to those reported in other studies conducted in Colombia.
 
Article
Neurocysticercosis (NC) is the infection of the central nervous system caused by the Taenia solium larva. It is related to a wide variety of clinical symptoms and pathological findings. Clinical study, diagnosis, treatment and evolution of 112 patients with NC. 112 patients with NC, between 1 and 14 years of age, were evaluated and followed from 18 months up to 13 years. The most common clinical symptoms were epileptic seizures and signs of intracranial hypertension. The disease progressed as follows: active forms were seen in around 39% of the cases (viable cysts in 3% and transitional/granulomatous form in 36%), encephalitic form in 22% and inactive form (calcifications) in 39%. In the great majority of the cases, a treatment with anti-helmitic was not used. The control of the crises was positive in 86% of the cases -94% in the transitional forms, 93% in the inactive forms and 68% in the encephalitic form-. Recurrence of crises happened after suspension of the medication in 12,5% of the granulomatous form and in 11,2% of the inactive form. Neurological sequelae occurred only in the encephalitic form (12/25 patients). Clinical findings and clinical evolution of neurocysticercosis in children is related to the evolutive form of the disease. The clinical evolution, including control of the crises and radiological control, is benign in the inactive and active forms, except in the encephalitic forms. The extraparenquimatous form is quite rare in the pediatric group.
 
Respuestas H superpuestas.  
Relación inversa entre reflejo H y respuesta M.  
Relación entre latencia, sexo y edad.  
Relación de latencia entre sexo y lado.  
Article
The Hoffmann reflex or H reflex is an electrical counterpart of the myotatic reflex. In normal adults is elicited with stimulating the tibial and the median nerves. It is useful as an adjunct study of neuroexamination and assesses the corresponding arc reflexes in their integrity. 248 H reflexes were studied stimulating the tibial nerve in 124 healthy subjects. The latency values were: minimum 23.6 ms; maximum 29.8 ms; mean value 27.6 ± 1.41 ms. This work explains the technique to obtain the H reflex and discusses the need for normalized values for each neurophysiology lab.
 
Article
Programmable valves are a possible solution in cases of excessive or insufficient draining. To report our experience with these shunts and clarify concepts. We have implanted 125 Codman-Medos programmable devices in 118 patients. The most frequent indication was secondary hydrocephalus, particularly due to obstruction by a tumour, and primary hydrocephalus. They were also used in cases of benign intracranial hypertension, CSF fistulas and arachnoid cysts. Most valves were inserted frontally, under antibiotic prophylaxis. Excluding patients with a follow-up of less than three months, the average follow-up was 14.63 +/- 9.07 months, with clinical improvement in 80%. There was 0% mortality in relation to surgery. The initial average pressure was 121.84 +/- 24.74 mmH2O and after 52 reprogrammings done in 36 (30%) of the patients, the final average pressure was 124.96 +/- 30.58 mmH2O. Reprogramming was done for the management of symptoms and to avoid subdural hygromas. We have observed no clinical signs of unprogramming. There were 29 complications which were treated by reprogramming in 7 cases and surgically in the remainder. We recommend frontal insertion, with a long peritoneal catheter, mainly in patients with hydrocephalus secondary to stenosis of the aqueduct of Sylvius, benign intracranial hypertension, after head injury and Arnold-Chiari malformation. The initial pressure is difficult to determine but tends to be average or high. Reprogramming is particularly useful in the treatment of subdural hygromas. We have observed no clinical signs of unprogramming. Complications tend to be due to surgical technique rather than the particular shunt used.
 
Article
The consequences of traumatic brain injuries (TBI) are devastating, whether it is in the personal, family, health care or social spheres. Sufferers will have to follow a rehabilitation programme in which we are going to be faced with a large number of medical, neurological and orthopaedic problems that will exert an influence on that programme. The aim of this study is to determine the epidemiological data and the gravity of the cases of TBI admitted to our Rehabilitation Unit, to identify medical and orthopaedic problems that occurred during the time patients were in hospital, and also to determine factors and variables that could have an effect on the onset of such complications. A retrospective descriptive study was conducted in which we surveyed and collected data from 126 case histories chosen at random from the 210 patients admitted to our Rehabilitation Unit between 1999 and 2001. Mean age, 29 years (interval 4 67), ratio of males to females, 4:1. The TBI were due to motorcycle accidents (40%), car accidents (30%) and falls (11.5%). Neurological problems appeared in 63%, the most frequent of which was psychomotor agitation. 14% displayed post traumatic hydrocephalus, and 8% presented post traumatic seizures. Gastro intestinal problems were seen in 41%, the most frequent being constipation. Respiratory problems were found in 36%, and 15.6% of the patients suffered from pneumonia. 8% displayed para articular ossifications. The number of days spent in the ICU and the days in coma were the more highly statistically significant variables associated with the onset of these complications. The problems presented by TBI patients during their stay in a Hospital Rehabilitation Unit are diverse and complex; the number of days spent in the ICU and the days they are in coma are the variables that can be of most use in predicting the onset of such complications.
 
Figura. Adecuación a los criterios de la Clasificación Internacional de Cefaleas, segunda edición (CIC-2), de los pacientes de nuestra serie y de las tres series más extensas recientemente publicadas. Se representa el porcentaje de adecuación de los pacientes de las cuatro series a cada uno de los criterios diagnósticos de la CIC-2, así como el cumplimiento de la totalidad de ellos.  
Article
Hypnic headache is a rare condition, since less than 150 cases have been reported to date. The second edition of the International Headache Classification (IHC2) has set out the diagnostic criteria of this condition, although some of them can be considered excessively strict. To present a series of 13 new cases of hypnic headache that were dealt with in the headache unit of a tertiary hospital and to analyse how well they fit the diagnostic criteria of the IHC2. Between January 2008 and January 2011, 13 patients (11 females and 2 males), out of a total of 1180 who visited the above-mentioned service (1.1%), were diagnosed with hypnic headache. The characteristics of the pain and the response to prophylactic treatment were evaluated. The age of onset of the clinical signs and symptoms was 56.7 ± 9.3 years (range: 40-76 years); in two patients (15.4%) it was prior to the age of 50. The number of symptomatic nights per month was 14.5 ± 7.6 (range: 5-25); in seven cases (53.8%) the number was less than 15 nights. All the patients presented one single episode per night, with a mean duration of 53.8 ± 24.6 minutes (range: 25-120 minutes). Thirty point seven per cent of the patients did not describe their pain as dull. Sixty-one point five per cent satisfied all the IHC2 diagnostic criteria. The characteristics of our series were similar to others that have recently been published. We propose that the next criteria in the IHC should include the possibility of the pain not being dull and that it occurs on fewer than 15 nights per month. The lower limit for the age of onset could be reduced to 40 years.
 
Article
The purpose of this report is to describe clinical pattern, EEG, outcome and differential diagnosis in severe myoclonic epilepsy in infancy (SMEI). We report 13 cases initially diagnosed of SMEI and selected according to the following criteria: first seizure between 1 and 12 months of life, frequent seizures resistant to antiepileptic drugs, no previous personal history of disease, normal psychomotor development before the first seizure and normal EEG, CT scanning and laboratory analyses at the beginning. CT and/or MRI were performed in 13 cases, arteriography in 2 patients, MR spectroscopic imaging in 1 child and SPECT in 3 cases. Quantification of enzymatic activities of the mitochondrial respiratory chain was made in 5 patients. Only 8 cases were finally diagnosed of SMEI according to ILAE definition. In two cases, seizures were finally controlled with antiepileptic treatment and EEG abnormalities disappeared. Three patients showed other findings: mesiotemporal sclerosis, angiitis diffusely involving CNS and mitochondrial cytopathy with deficiency of the complex IV. Although diagnosis of SMEI, based on clinical manifestations, is suspected in most cases from the first year of life, final diagnosis should not be confirmed until steady state, when polymorphous seizures occur. Even then, differential diagnosis should be made with other disorders. Perhaps, further studies should be performed in order to identify and eliminate another etiology.
 
Article
We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.
 
Article
Episodic disseminated inflammation of the central nervous system (CNS) presents in processes that are difficult to differentiate, such as acute disseminated encephalomyelitis (ADE) and its multiphasic variants, and multiple sclerosis (MS). Magnetic resonance imaging allows these problems to be identified more frequently than in the past. We carried out a retrospective study of the cases of episodic disseminated inflammation of the CNS, according to clinical features and compatible neuroimaging, at the Neuropaediatric Unit of the Hospital Infantil Miguel Servet, between May 1990 and August 2003. Of the 6777 children evaluated over this period, 10 met the eligibility criteria, with a minimum age at onset of 2 years and 2 months. In four cases there was a history of an infectious process or vaccination. Clinical involvement was multisymptomatic, the most frequent being ataxia, dysmetry, tremor, drowsiness, paresis and cranial nerve involvement. Six of them had cerebrospinal fluid disorders and only two presented disorders in the fundus oculi. Five of them were given corticoid treatment. Progress was favourable, except in two cases: one due to the persistence of a corticoid dependent optical neuropathy and the other because of dyskinesia in the right hand. Diagnosis of ADE is established by signs of multifocal clinical involvement and neuroimaging, and depends on a compatible progression. Prognosis is generally good and corticoids seem to be effective, at least in shortening the time the clinical features last. It is not possible to completely differentiate it from MS, especially in recurring forms. Clinical and magnetic resonance controls must be carried out.
 
Article
Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in children over 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. AIM. To report our experience of associating LEV in children with medication resistant epileptic seizures. We conducted an open, observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other types of seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of the seizures and the side effects related to the drug. With average doses of LEV of 1,192 +/- 749 mg/day the frequency of the seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were produced in 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In 37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. a) LEV is an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizures indicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that has been reported only exceptionally in the case of other antiepileptic drugs.
 
Article
To establish the relationship between cardiopathy and chronic nephropathy, and cerebral vascular pathology in clinical necropsies performed in adult patients. The protocols of 861 clinical autopsies done during the lapse 1990-2000 were reviewed, of these, 134 cases with diagnosis of cerebrovascular disease (CVD) were selected. Analyzed features included: neuropathological study of CVD, renal and cardiovascular pathology, and cause of death. CVD represented 15.5% of all autopsies done during the study period. Ischemic CVD constituted 56.7% of the cases, whereas cases of hemorrhagic CVD accounted for 43.3% of the total. Causes included arterial hypertension (33%), atherosclerosis (19%), emboli and vascular malformations (13% each, respectively), coagulopathies (8%), angeiitis (4%), tumors (1%), and unknown origin (11%). Ischemic CVD was caused by atherosclerosis in 34.2% of the cases, lacunar infarcts in 32.8%, of embolic cause in 14.4% of the cases, angeiitis in 1.3%, and of unknown origin in 17.1% of the cases. Hemorrhagic CVD presented as intraparenchymal hematoma in 50% of the cases, as sub-arachnoid hemorrhage in 28%, as disseminated petechial hemorrhages in 19%, and intraventricular in 3% of the cases. Ischemic CVD was associated with hypertensive cardiopathy in 86.5% of the cases, and with nephrosclerosis in 51.3%, whereas hemorrhagic CVD was seen associated with the same pathological entities in 86.2% and 29.3% of the cases, respectively. Cerebral herniation was the cause of death in 2.6% of the patients with ischemic CVD, and in 74.1% of the patients with hemorrhagic CVD. CVD was associated with a high frequency of intercurrent pathological processes, namely hypertensive cardiopathy, atherosclerosis, nephroscleroisis, and other chronic nephropathies, that eventually interact, and constitute well known predisposing and/or concomitant factors to the cerebrovascular event
 
Article
Intracranial stenoses (IS) are known to be a manifestation of atherosclerosis and a cause of cerebral ischemia, although very few clinical reports have appeared describing such patients in our milieu. The aim of this study was to describe the vascular risk factors, clinical presentation, radiological characteristics, aetiological role played in strokes and the vessels affected in a series of Spanish patients suffering from stroke and IS. We conducted a retrospective descriptive study of patients admitted to the Cerebrovascular Pathology Unit with strokes and IS between 1990 and 2001. Data collected included: age, sex, arterial hypertension (AHT), diabetes (Db), hypercholesterolemia (HC), smoking (Sm), ischemic or emboligenic heart disease, intermittent claudication, carotid atheromatosis, clinical presentation of stroke and earlier lesions in computerised axial tomography (CAT) scans of the brain. 132 patients; 187 stenotic vessels: 65.7% males, mean age 68.3 years. AHT 65%, Db 39%, HC 40%, Sm 43%, ischemic heart disease 22%, emboligenic heart disease 17%, intermittent claudication 13%. Clinical presentation: TIA 16%, LACI 33%; PACI 25%, TACI 4%, POCI 19%. Significant carotid atheromatosis 26.5%. Symptomatic IS 50%: mean age 63.3 years, 64% females. Arteries affected: vertebral (VA) 28%; middle cerebral (MCA) 27%; carotid siphon 21%; basilar (BA) 10% (65% symptomatic); anterior cerebral (ACA) 5% and posterior cerebral (CPA) 4%. Normal cranial CAT scan 24%, lacunar infarcts 42%, territorial 32%; leukoaraiosis 17%. Patients with stroke and IS display different clinical profiles according to their sex (males: a higher number of vascular risk factors and clinical involvement of other territories; females are more symptomatic, AHT and HC); they usually present clinically as lacunar syndromes, with a scarce amount of significant atheromatous carotid involvement, except IS of the VA, and IS of the BA are the most symptomatic.
 
Article
In the literature there is evidence relating different factors such as age and preoperative clinical condition with prognosis in patients treated surgically for chronic subdural haematoma. To clarify and quantify the magnitude of the factors which determine early prognosis (during hospital admission) of these patients. We made a prospective study of 137 patients who had been operated on in our centre and found the relationship between different clinical and therapeutic variables with the clinical course and morbidity-mortality by means of multivariate and survival analysis. A high Markwalder functional score (3-4) is an independent factor of poor prognosis (OR = 13.15; CI 95% 6.1-28.4; p = 0.01), as is the presence of a coexisting coagulopathy (OR = 27.2; CI 95% 9.3-79.5; p = 0.01). Advanced age tended to increase the risk (OR = 1.104) but did not reach statistical significance (p = 0.0654). A multivariate logistic model, which included the functional score and presence of coagulopathy, correctly classified 94.7% of the cases studied. Analysis of survival showed two groups with different early mortality as a function of the Markwalder score (high: 3-4 and low: 0-1-2), which could be differentiated statistically (Log-Rank chi squared test: 3.95; p = 0.0468). The preoperative clinical state classified by functional scores and the presence of underlying coagulopathy are the main prognostic factors in chronic subdural haematoma during hospital admission. Advanced age is probably not in itself an independent factor for bad prognosis.
 
Article
Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.
 
Article
Benign paroxysmal vertigo (BPV) is characterised by the sudden onset of brief recurring episodes of loss of balance, sometimes accompanied by vegetative symptoms, which tend to disappear spontaneously in a matter of months or years and have no intercritical alterations. We analyse the clinical and developmental characteristics of the patients who were listed as possible cases of benign paroxysmal vertigo in the database of the Neuropaediatric Unit of the Hospital Miguel Servet in Zaragoza over a 14 year period. Clinical records were reviewed and cases no longer controlled were contacted by telephone. 18 patients were considered to be cases of BPV, with the typical criteria, and 13 were found to be possible BPV (p-BPV). The atypical data of the p-BPV included late age of onset, prolonged persistence of the episodes and long duration of each episode. Neuroimaging was performed in 8 (44%) of the BPV and 10 (77%) of the p-BPV, and electroencephalogram recordings were carried out in 15 (83%) of the BPV and 11 (85%) of the p-BPV, with normal results in all cases. Establishing a diagnosis of BPV with strict criteria can mean that some atypical cases are excluded. As no biological marker is available, the diagnosis is clinical-developmental and sometimes complementary tests need to be conducted in order to rule out other pathological conditions. A broader clinical spectrum, cases in which the episodes last longer and a greater range of ages of onset and complete remission are all possible. A diagnosis of BPV should reassure the patients' families as it is a benign process that tends to disappear spontaneously.
 
Article
INTRODUCTION. Occipital neuralgia is a pain in the distribution of the occipital nerves, accompanied by hypersensitivity to touch in the corresponding territory. AIMS. We present the occipital neuralgia series from the specialised headache unit at a tertiary hospital and analyse its clinical characteristics and its response to therapy. PATIENTS AND METHODS. Variables were collected from the cases of occipital neuralgia diagnosed in the above-mentioned headache unit between January 2008 and April 2013. RESULTS. A series of 14 patients (10 females, 4 males) with occipital neuralgia was obtained out of a total of 2338 (0.59%). Age at onset of the clinical signs and symptoms: 53.4 ± 20.3 years (range: 17-81 years) and time elapsed to diagnosis was 35.5 ± 58.8 months (range: 1-230 months). An intracranial or cervical pathology was ruled out by suitable means in each case. Baseline pain of a generally oppressive nature and an intensity of 5.3 ± 1.3 (4-8) on the verbal analogue scale was observed in 13 of them (92.8%). Eleven (78.5%) presented exacerbations, generally stabbing pains, a variable frequency (4.6 ± 7 a day) and an intensity of 7.8 ± 1.7 (range: 4-10) on the verbal analogue scale. Anaesthetic blockade was not performed in four of them (two due to a remitting pattern and two following the patient's wishes); in the others, blockade was carried out and was completely effective for between two and seven months. Four cases had previously received preventive treatment (amitriptyline in three and gabapentin in one), with no response. CONCLUSIONS. In this series from a specialised headache unit, occipital neuralgia is an infrequent condition that mainly affects patients over 50 years of age. Given its poor response to preventive treatment, the full prolonged response to anaesthetic blockades must be taken into account.
 
Article
Absence epilepsy (AE), typically occurring at the paediatric age, is characterised by episodes of diminished consciousness accompanied by a generalised rapid spike-wave in electroencephalogram recordings. Our study involved children with AE from the Neuropaediatrics database between May 1990 and May 2004. Patient records were reviewed and cases no longer controlled were contacted by telephone. Of a total of 7,562 patients surveyed in the period under study, 757 subjects (10%) had epilepsy and there were 49 cases of AE (6.47% of the total number of cases of epilepsy): 29 were females (59.2%) and 20 were males (40.8%). Mean age at the time of the first visit was 7.93 years (ranging between 3 years and 10 months and 13 years and 6 months). The average follow-up time between the first visit and the last time information was updated was 5.3 years (ranging between 10 days and 13 years and 2 months). Only two females, receiving treatment, still have absences. 42 children have been without absences for more than six months, 16 with treatment and 26 without therapy; 21 children have been without absences for over four years and are not under treatment. 12 have problems at school. AE is easy to diagnose and usually responds well to treatment either as monotherapy or, in some cases, in association with two antiepileptic agents. Strict initial control by experts in its management prevents absences from continuing over long periods of time. The psychosocial and learning dysfunctions that are associated in some cases require close attention.
 
Article
McArdle's disease is a disorder of muscle energy metabolism caused by a deficit of muscle phosphorylase. The typical form presents with fatigability muscle cramps and pains triggered by physical exercise. Some cases have few symptoms. We report the case of a 14 year old girl diagnosed on finding a significantly raised CPK, studied following her complaint of fatigability. A 14 year old girl presented with a CPK of 1,243 UI/l (normal 10-32) which had been requested in view of her fatigability. She had never had cramps, muscle pains or dark urine. Neurological examination was normal. The levels of CPK after intense exercise on the previous days were 7,459 UI/l, and after rest for one week were 283 UI/l (normal 25-230). The ischemic exercise test showed that she was unable to finish the test, with flat lactate and pyruvate curves and markedly raised ammonia (basal 89 and maximum 571 micrograms/dl). On muscle biopsy, the morphology of the striated muscle was seen to be normal and staining for myophosphorylase was negative. The fluctuations of muscle enzyme levels in relation to exercise orientate the diagnosis towards a disorder of muscle energy metabolism. To detect this, the investigation should be carried out following severe exercise for several days and then compared with a further test after some days of rest. The ischemic exercise test permits identification of defects of glycogenolysis, orientating the choice of suitable histochemical, enzymatic or molecular biological tests.
 
Article
Meralgia paraesthetica is a pathology that is frequently seen in visits to extra-hospital neurology services. Nevertheless, the diagnosis, treatment and prognosis of this condition remain somewhat unclear. A retrospective study was conducted involving 140 patients. Data were collected concerning demographic aspects, clinical picture, diagnostic study, aetiology, treatment and progression. There was a predominance of males, with a mean age of 54 years. The mean follow-up time was 25 months. The symptoms that were reported were as follows: numbness, burning pain, tingling or prickling in the nerve territory. Hypaesthesia was the most frequent sign found in the examination. History of another compressive neuropathy was present in 13.6% of patients. The diagnosis was based on the patient record and the neurological examination. The neurophysiological study and complementary tests were reserved for atypical cases. The most common causation was spontaneous and only three cases were found to be secondary to a structural lesion. A third of the patients were receiving pharmacological treatment. Although the clinical picture was benign, in most cases it tended to become chronic. Patients treated pharmacologically did not show a significant improvement in comparison to those who were not given treatment. The most important data for forecasting improvement of the clinical picture were the identification and correction of the factors precipitating compression of the nerve. Meralgia paraesthetica is a frequent, benign pathology but with a tendency to become chronic that responds poorly to pharmacological treatment. It is important to identify and correct mechanical factors and only in exceptional cases is it secondary to a structural lesion.
 
Article
To show the disorders of the brain cortical development and the possible origin in base to a large series studied in a Pediatric Neurology service. A series of 144 children with ages ranging between newborn and 12 years was studied from the clinic, image (MR, 3DMR) and evolutive point of views. The diagnosis was: polymicrogyria in 61 cases, lissencephaly in 22, eschizencephaly in 16, heterotopia in 16, cortical dysplasia in 9, hemimegalencephaly in 8, cobblestone in 7, sublobar dysplasia in 3, and 'double cortex' in 2. Mental retardation, motor disorders and epilepsy were the most important anomalies. Actually, the image is the most important study to make the diagnosis of every type of cerebral malformation. However, to know the specific gene that origin every disorder seems to be the most important thing to make the classification of every malformative type and the possible prevention of this pathology.
 
Article
The neurosciences developed at a swift pace throughout the 19th century. In Spain, following the intellectual poverty of the absolutist rule of King Ferdinand, medicine took on a new flourishing lease of life in the last third of the century under the leadership of its most distinguished proponent, Santiago Ramon y Cajal. In April 1903, and in spite of the country's multiple political and social ups and downs, Madrid organised a great medical convention (14th International Congress of Medicine) that gathered together the foremost figures in the neurosciences. This work attempts to describe the situation in which neurology found itself at that time, as well as the socio-political context, and to highlight the most important contributions that were made in our specialty. A whole medical generation from around the world enthusiastically took part and 1681 communications and papers were presented, many of which dealt with neurological topics. Special mention should be made of the presentations by Cajal, who described the histological structure of the optic thalamus, and by Pavlov, who gave details of his theory of conditioned reflexes for the very first time.
 
Article
Rotigotine is a non-ergot dopamine agonist that has become the first treatment for Parkinson's disease formulated as a transdermal release system. Its side effects are very similar to those of other dopamine agonists, as well as those deriving from the site of application, while its advantages include a once-daily administration, the absence of interactions with foods and steady levels in plasma. To determine the frequency of and reasons for withdrawing rotigotine in 150 consecutive patients diagnosed with Parkinson's disease. A retrospective analysis was carried out using the database at our Movement Disorders Unit in order to identify the first 150 patients who were treated with rotigotine. Only patients with Parkinson's disease who were free of intracranial lesions, psychiatric pathologies or dementia were eligible for inclusion in the sample. Patients were evaluated before and at two, four and six months after beginning treatment with rotigotine. In all, 85 males and 65 females were identified. A total of 110 of them had previously been treated with dopamine agonists. Although 12% of the patients dropped out, 88% of them continued the treatment. The reasons for withdrawing were worsening of the clinical condition (12 patients), lack of effectiveness (three patients), drowsiness (two patients) and dyskinesias (one patient). Rotigotine is safe and effective as medication in the treatment of Parkinson's disease. The fact that most of the drop-outs were due to a worsening of the clinical signs and symptoms after changing from another dopamine agonist suggests the need for an equivalence between other agonists and rotigotine.
 
a) Actividad eléctrica del núcleo subtalámico. a) Electromiografía (EMG) del flexor y extensor del antebrazo y la actividad de una neurona subtalámica. Movimientos pasivos ejercidos por el neurólogo. En la parte superior se incluyen los eventos de los tres registros para formalizar los histogramas que se muestran a continuación; b, c y d) Histogramas de autocorrelación de la EMG del músculo extensor, de la neurona durante los movimientos pasivos y de la actividad espontánea de ésta después del test clínico, respectivamente. La neurona descarga con un patrón rítmico relacionado con el extensor; e) Se observa la actividad espontánea de una neurona subtalámica en otro paciente con Parkinson. Descarga a alta frecuencia con salvas de descargas irregulares . En la parte superior se despliega la frecuencia media (79 Hz), que globalmente muestra una oscilación lenta de aproximadamente 1 Hz (líneas gruesas negras).  
Actividad neuronal del núcleo ventral intermedio. Registro del acelerómetro, de la electromiografía (EMG) y de la neurona simultáneamente . a) El temblor comienza de forma espontánea y se observa el aumento de frecuencia de la neurona con el temblor; b) Otro paciente con temblor. Se observa la relación temporal del temblor, de la EMG y de la neurona. La flecha señala la correlación entre los tres registros.  
Actividad neuronal del globo pálido interno; paciente con distonía. a1) Electromiografía y actividad unitaria. La neurona incrementa significativamente la frecuencia con un movimiento involuntario del paciente; b1) el paciente abre y cierra el puño. La neurona responde con vigor a estos movimientos voluntarios; a2) Aumento de la frecuencia de una neurona cuando eleva y mantiene el brazo suspendido. Arriba se posiciona el movimiento del brazo; debajo, la frecuencia media; e inmediatamente inferior, la actividad neuronal. Se muestra la elevación, suspensión del brazo en el aire y descenso a su posición original. La flecha indica que existe un aumento de la frecuencia con respecto al comienzo (punteado) y continúa descargando en brotes rítmicos; b2) Respuesta de una neurona al test clínico. Está relacionada con los movimientos pasivos de flexión y extensión de la muñeca. Los rectángulos en blanco implican cada uno un movimiento de flexión y extensión. La marca en negrita indica cómo varía la actividad de la neurona después de cada test (en Hz). Obsérvese el incremento de la frecuencia con cada test.  
Estudio de la electromiografía (EMG) superficial. a y b) Registro de la EMG del vasto lateral de un paciente con Parkinson durante la estimulación en off (izquierda) y en on (derecha). El paciente está sentado y se pone de pie (A), permanece de pie 30 s (B) y luego se vuelve a sentar. Datos crudos de la EMG (debajo) y su rectificación (arriba). El análisis del segmento inicial de la EMG cuando se pone de pie (A) indica diferencias significativas en los dos estados. El área aumenta un 185%, y la pendiente, un 495% en estimulación on con respecto a la estimulación off (p > 0,0001). En la fase estática (B) existe una disminución significativa del tono muscular de –48 % (p < 0,001); c) Efecto del electrodo de estimulación implantado. Registro en quirófano. El neurólogo practica el test característico de flexión-extensión pasiva de la muñeca antes (c1) y durante la estimulación (c2) con el electrodo implantado en el núcleo subtalámico en un enfermo de Parkinson. Los movimientos pasivos inducen una EMG propia de la resistencia de estos movimientos antes de encender el estimulador. La estimulación reduce considerablemente la amplitud de la EMG y posibilita un movimiento más suave (c2; estimulación on). En c3 se muestra la raíz cuadrada media calculada durante el test neurológico en quirófano: flexión-extensión pasiva de la muñeca. Se puede observar una disminución de la rigidez, expresada en voltaje, cuando se está estimulando durante el test clínico.  
a1) Datos generales de los pacientes intervenidos; a2) Pacientes intervenidos con temblor ; b1) Unified Parkinson's Disease Rating Scale III antes de la cirugía (izquierda) y un año después de la cirugía (derecha). Resultados en 89 pacientes operados de Parkinson; b2) Escala de distonía Burke-Fahn-Marsden obtenida en 10 pacientes sujetos a cirugía. Izquierda, subescala motora , y derecha, subescala de discapacidad. Seguimiento a uno y dos años después de la cirugía.  
Article
Deep brain stimulation (DBS) is a widely accepted clinical technique. The main motor symptoms are significantly reduced. The success of the technique depends on the experience of the neurosurgeon, neurologist and neurophysiologist who carry it out. The presentation of extensive series is needed to confirm and further currently held knowledge. To demonstrate the clinical benefits of a long series of patients treated by a single group with a minimum follow-up of one year and to report new neurophysiological data. The study examined a total of 250 patients with different diagnoses: most of them with Parkinson's disease, tremor and dystonia. The nuclei that were chosen were located by magnetic resonance imaging, computerised axial tomography and neurophysiological registers. Neurophysiological exclusion criteria, such as reflex control of heart rate, sympathetic skin response and auditory startle reflex, are employed in order to exclude patients with Parkinson-plus. The motor sub-scale (part III) of the Unified Parkinson's Disease Rating Scale improves by 64% in the off-medication status with sub-thalamic stimulation at one year after surgery. One year after DBS, patients with dystonia show a significant decrease on the Burke-Fahn-Marsden dystonia scale. The improvement on the scales continues, with a mean descent of 65% in the second year after surgery. DBS is a suitable technique for the treatment of movement disorders. The neuronal activity of the sub-thalamus and the internal globus pallidus presents its own characteristics that reflect the motor symptoms of the patients. Surface electromyography proves to be useful for quantifying the patients' improvement.
 
Article
In this paper we present epidemiological data from a register of cases of epilepsy attended in the Centro de Especialidades of the Alboraya street in Valencia. The sample corresponds to a particular type of healthcare setting, halfway between the family doctor and the specialist hospital department, which has recently begun to be developed in Spain in the field of neurology. The sample consisted of 150 patients who completed a questionnaire-type protocol. The average age of the patients was 39.66 +/- 19.60 years, slightly more in the men than in the women. There were slightly more women than men included in the study. The epilepsy was either long-term or of recent onset. The average age of onset was 25.42 +/- 21.35 years. More than two thirds of the sample, that is 108 patients (72%) had partly controlled disease. However, a considerable number of them were irregularly controlled and another group of 23 (15.3%) were on polytherapy with three or more antiepileptic drugs. The data from this series of 150 cases is, in general, similar to that of other epidemiological studies done in Spain. However, it is noticeable that there is a high proportion of patients with problems of control, although this may be due simply to a bias in the selection. We hope that the publication of this new data will stimulate new studies to analyse the attention give to patients with epilepsy in this healthcare setting.
 
Article
There is some controversy about the possible relation between HLA-DR2 (DRB1*1501-DRB5*0101-DQA1*0102-DQB1*0602) and the severity of multiple sclerosis (MS), which could be due, at least in part, to methodological differences among the different studies dealing with this subject and/or to a lack of phenotypic homogeneity within the series of patients. This study aims to contribute information about the possible relation between DR2 (more specifically the HLA-DRB1*1501 allele) and the severity of MS. We conducted a study of 43 individuals with clinically defined MS, whose degree of severity was determined using Kurtzke's EDSS, and 107 controls from a similar ethnic origin. DETERMINATIONS: HLA typing by PCR-SSO and PCR-SSP, analysis of oligoclonal IgG bands in CSF by isoelectric focusing, and quantification of the intrathecal synthesis of IgG (IgG index, IgG ratio, Reiber's formula and Tourtellotte's formula). Chi2 test, Mann-Whitney test and Kendall correlation coefficient. DRB1*1501 is associated with the presence of MS only in females and with lower severity of the disease only in males. These associations do not appear to depend on any kind of effect exerted by DRB1*1501 on the intrathecal synthesis of IgG that differs between the two sexes. The absence of a relation between DRB1*1501 and the severity of MS reported in many studies could be due to not stratifying the patients according to sex. Our findings emphasise how important it is in genetic studies of complex traits to reduce the phenotypic heterogeneity of patients as much as possible.
 
Article
The aim of this study was to investigate the changes in the cerebral blood flow that took place in normal subjects during an auditory attention paradigm which included automatic and controlled processing components. Participants consisted in 10 normal subjects who were submitted to medical, neuropsychological and neuroimaging evaluation. PET was used to carry out an exploration of each subject in the four experimental conditions: basal, listening to clicks (A), counting while listening to clicks (C+A) and counting without listening to clicks (C). During the condition involving counting while listening to clicks (automatic processing) the subjects displayed a significant increase in the activation of the bilateral precentral convolutions, left dorsolateral prefrontal cortex (DLPFC), left inferior and superior frontal convolutions, left supplementary motor area and the left superior and inferior temporal convolution. During the condition involving counting without listening to clicks (controlled processing), the subjects activated the right precentral convolution, bilateral DLPFC, the right supplementary motor area, anterior cingulate and right inferior parietal convolution. The results obtained support the suggestion that regions such as the DLPFC and the inferior parietal convolution play a part in attentional tasks in which the subject is required to make an effort to carry out the controlled processing of information.
 
Figura. Genealogía extendida multigeneracional de una familia con múltiples individuos afectados de epilepsia idiopática generalizada (EIG) perteneciente a la comunidad Paisa, aislado genético de Antioquia, Colombia. En negro, individuos afectados con EIG. En blanco, individuos con EEG anormal, que se consideraron como posiblemente afectados.  
Article
Linkage analyses provide strong evidence of how genetic factors influence epilepsy, due to the fact that they involve the determination of the cosegregation of specific marker alleles with epilepsy within families. Our aim was to determine whether there was some kind of propensity to develop generalised idiopathic epilepsy (GIE) in the 15q22.1-q25.1 region in an extended multigenerational family from the Paisa de Antioquia community, which is a genetic isolate located in Colombia that segregates for GIE and has a strong capacity to detect linkage. We selected a family containing a number of individuals suffering from epilepsy who visited the Antioquia Neurological Institute. Each affected individual had to have been diagnosed by a neurologist as suffering from non-myoclonic idiopathic epilepsy or from partial idiopathic epilepsy. All patients suspected of suffering from idiopathic epilepsy were submitted to video monitoring in order to characterise seizures electroencephalographically. Of the 106 individuals in this family who were included in the family tree, 76 were genotyped; 15 of them suffered from generalised clonic tonic seizures and six were considered as being possibly affected. Lod score results were significantly negative for all the markers in relation to each of the models under consideration. The possibility of the genes that code for the a-3, a-5 and b-4 subunits of the neuronal nicotinic acetylcholine receptor (CHRNA3, CHRNA5 and CHRNB4) situated in the 15q region being responsible for the familial aggregation of GIE in this family, as has been suggested in previous studies in other families, was ruled out.
 
Article
A neuropsychological test battery for 5 to 16 year old children has recently been developed. This battery is called Neuropsychological Assessment of Children (Evaluacion Neuropsicológica Infantil, ENI) and it includes the following sections: attention, constructional skills, memory encoding, perceptual skills, memory recall, language, metalinguistic skills, reading, writing, arithmetic, spatial skills, conceptual skills and executive functions. Our aim was to obtain norms for the ENI in a Colombian population between 5 and 16 years of age. We selected 252 children (92 boys and 160 girls) in the city of Manizales (Colombia), and they were administered the ENI. In order to obtain an external validity, 21 of the participants were also given the Wechsler Intelligence Scale for Children Revised (WISC R). Statistically significant differences were found on most of the subtests across age groups. Differences between boys and girls appeared more specifically in tests of visuoperceptual, visual constructional, spatial and numerical skills. Some of the ENI subtests correlated with the WISC R subtests. It is suggested that the ENI could satisfy the existing need in the Spanish speaking world for neuropsychological tools with which to assess children and adolescents.
 
Top-cited authors
Fernando Mulas
  • Instituto valenciano de Neurologia Pediatrica. INVANEP
Josep Artigas
Alfredo Ardila
  • I.M. Sechenov First Moscow State Medical University
Francisco Javier Lopera
  • University of Antioquia