Publications (71)255.33 Total impact
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Article: Inter-rater agreement in the assessment of response to motor and cognitive rehabilitation of children and adolescents with epilepsy.
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ABSTRACT: To assess inter-rater agreement among child neurologists and psychiatrists on evaluation of response to physical and cognitive rehabilitation of children and adolescents with epilepsy. Five child neurologists/psychiatrists ("raters") were invited to draw 2-3 short case reports among those most commonly seen. 14 case histories were presented and raters used a structured questionnaire to report changes after selected rehabilitation programs. Response was coded as "Yes", "No", or "Uncertain" in different functional domains (Motor, Social, Alimentary, Communication, Personal Autonomy). Inter-rater agreement was measured using the kappa statistic. Raters where then asked to discuss any reason for disagreement. The test was repeated with different cases (16 case histories) adding a sixth rater, who had participated to the discussion. Even with this small number of cases, the agreement mostly ranged from poor to good in the first test (worse for Social, Personal Autonomy and Communication). Training improved agreement in almost all domains. There were no frank outliers. The agreement was lower with a specific approach (i.e. grouping "Uncertain" to "No") than with sensitive approach (i.e. grouping "Uncertain" to "Yes"). The interpretation of patients' response to physical and cognitive rehabilitation tends to vary among Italian child neurologists/psychiatrists depending on measures and training procedures. Discussion and training improves agreement, although this is only a pilot study conducted using a non standardized questionnaire.European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 01/2011; 15(3):254-9. · 2.01 Impact Factor -
Article: Response to rehabilitation of children and adolescents with epilepsy
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ABSTRACT: One hundred fifty-six children and adolescents with epilepsy from six Italian rehabilitation units were retrospectively enrolled to define the proportion of patients with epileptogenic developmental disorders who benefit from comprehensive rehabilitation programs and to identify factors predicting treatment response. The rehabilitation programs were classified as neuromotor, psychomotor, and speech and language. For each program, the response was coded as present or absent according to the caring physician's judgment. Selected demographic and clinical variables were correlated to treatment response. Neuromotor rehabilitation was performed in 86 cases (55%), psychomotor rehabilitation in 54 cases (34%), and speech and language rehabilitation in 40 cases (26%). Response rates were 58, 74, and 90%, respectively. Independent negative predictors of treatment response included severity of functional impairment (odds ratio = 0.02, 95% confidence interval = 0.01–0.14) and daily seizures (odds ratio = 0.22, 95% confidence interval = 0.08–0.58).Research Highlights► Response to rehabilitation differs among patients with epilepsy with developmental disorders. ► The response rate is highest for speech and language rehabilitation and lowest for neuromotor rehabilitation. ► Negative predictors include functional impairment and daily seizures.Epilepsy & Behavior 01/2011; 20(1):79-82. · 2.34 Impact Factor -
Article: Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.
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ABSTRACT: GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in the catabolism of gangliosides. It has been proposed that substrate reduction therapy using N-butyl-deoxynojirimycin (miglustat) may delay neurological progression, at least in late-onset forms of GM2 gangliosidosis. We report the results of a 3-year treatment with miglustat (100 mg t.i.d) in a patient with chronic Sandhoff disease manifesting with an atypical, spinal muscular atrophy phenotype. The follow-up included serial neurological examinations, blood tests, abdominal ultrasound, and neurophysiologic, cognitive, brain, and muscle MRI studies. We document some minor effects on neurological progression in chronic Sandhoff disease by miglustat treatment, confirming the necessity of phase II therapeutic trials including early-stage patients in order to assess its putative efficacy in chronic Sandhoff disease.Journal of Inherited Metabolic Disease 09/2010; · 3.58 Impact Factor -
Article: Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: a laser-evoked potential study.
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ABSTRACT: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy. The CMT1A type can be considered the typical phenotype of this disease. Although pain is not considered a relevant symptom in CMT patients by physicians and no study assessed it comprehensively, this symptom is frequently complained by patients. The objective of the present study was to investigate the nociceptive system in a sample of CMT1A patients suffering from pain by laser-evoked potentials (LEPs). Moreover, we also used a pain specific questionnaire in order to obtain patient-oriented data about their painful symptoms, the Neuropathic Pain Diagnostic Questionnaire (DN4). We evaluated 16 patients affected by CMT1A and 14 controls. All subjects underwent a standard LEP recording session (foot, hand, and face stimulation) and filled in the DN4. While the N2/P2 amplitude to foot stimulation was lower in CMT patients than in controls (p=0.003), no difference in LEP amplitude to both hand and face stimulation was found between patients and healthy subjects (p>0.05). This result is probably due to a length-dependent Adelta-fiber loss which involves mostly the longer fibers coming from the lower limb. In our patients, there was a significant association between a reduced N2/P2 amplitude to foot stimulation and a high DN4 score (p=0.03), meaning that patients with highly probable neuropathic pain had also low N2/P2 amplitude values to painful foot stimulation. This suggests that in our CMT1A patients neuropathic pain is probably related to a reduction of the Adelta afferents.Pain 03/2010; 149(2):379-85. · 5.78 Impact Factor -
Article: Neuropathy with predominant small fiber involvement associated with abnormal anti-MAG titer.
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ABSTRACT: We describe a patient with painful neuropathy associated with an abnormal anti-MAG titer in which predominant involvement of intra-epidermal nerve fiber was documented. Electrophysiological studies revealed low-borderline amplitude of sensory and compound motor action potentials registering from lower limbs and normal conduction velocity. Sural nerve biopsy disclosed only a slight loss of myelinated fiber. Skin biopsy performed at the proximal thigh and at the distal leg was consistent with a non-length-dependent small fiber neuropathy. It is likely that in this case anti-MAG antibodies played a role in the pathogenesis of small fiber neuropathy.Internal Medicine 01/2010; 49(23):2627-9. · 0.94 Impact Factor -
Article: Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.
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ABSTRACT: Myasthenia gravis (MG) and paraneoplastic cerebellar degeneration (PCD) are immune-mediated syndromes that can represent paraneoplastic disorders. We report a patient with history of ovarian carcinoma that presented with ptosis, diplopia and gait ataxia. Neurophysiological examination and laboratory tests revealed the presence of MG and PCD. An integrated FDG-PET/contrast-enhanced CT scan showed tumor recurrence. This is to the best of our knowledge the first association of MG and PCD with recurring ovarian carcinoma.Neurological Sciences 10/2009; 31(1):79-81. · 1.32 Impact Factor -
Article: Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.
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ABSTRACT: Of all the SOD1 gene mutations described, uniquely the D90A mutation has been identified in recessive, dominant, and apparently sporadic cases. We describe a patient with a sporadic form of amyotrophic lateral sclerosis (ALS) in which a heterozygous A > C exchange at position 272 in the SOD1 gene was detected. This mutation results in an amino acid substitution of alanine for aspartate at position 90 (D90A). The patient had a 12-year history of disease characterized by slow progression. Clinical examination at last follow-up revealed predominant upper motor neuron (p-UMN) involvement, with atrophies only in distal muscle of upper limbs. Electrophysiological examination revealed lower and upper motor neuron involvement. Family history was negative for neurological disease. This report shows that D90A in heterozygous state may cause p-UMN phenotype with very slow progression.Neurological Sciences 09/2009; 30(6):517-20. · 1.32 Impact Factor -
Article: Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.
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ABSTRACT: Sporadic amyotrophic lateral sclerosis (SALS) is a motor neuron degenerative disease of unknown etiology. Current thinking on SALS is that multiple genetic and environmental factors contribute to disease liability. Since neuronal acetylcholine receptors (nAChRs) are part of the glutamatergic pathway, we searched for sequence variants in CHRNA3, CHRNA4 and CHRNB4 genes, encoding neuronal nicotinic AChR subunits, in 245 SALS patients and in 450 controls. We characterized missense variants by in vitro mutagenesis, cell transfection and electrophysiology. Sequencing the regions encoding the intracellular loop of AChRs subunits disclosed 15 missense variants (6.1%) in 14 patients compared with only six variants (1.3%) in controls (P = 0.001; OR 4.48, 95% CI 1.7-11.8). The frequency of variants in exons encoding extracellular and transmembrane domains and in intronic regions did not differ. NAChRs formed by mutant alpha3 and alpha4 and wild-type (WT) beta4 subunits exhibited altered affinity for nicotine (Nic), reduced use-dependent rundown of Nic-activated currents (I(Nic)) and reduced desensitization leading to sustained intracellular Ca(2+) concentration, in comparison with WT-nAChR. The cellular loop has a crucial importance for receptor trafficking and regulating ion channel properties. Missense variants in this domain are significantly over-represented in SALS patients and alter functional properties of nAChR in vitro, resulting in increased Ca(2+) entry into the cells. We suggest that these gain-of-function variants might contribute to disease liability in a subset of SALS because Ca(2+) signals mediate nAChR's neuromodulatory effects, including regulation of glutamate release and control of cell survival.Human Molecular Genetics 08/2009; 18(20):3997-4006. · 7.64 Impact Factor -
Article: Prevalence of primary focal or segmental dystonia in adults in the district of foggia, southern Italy: a service-based study.
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ABSTRACT: Primary focal or segmental dystonia is a rare clinical condition including early-onset dystonia, which has the tendency to generalize, and late-onset dystonia, which may be focal or segmental. The prevalence of late-onset dystonia ranges from 30 to 7,320 cases per million, but no data are available in Italy. A service-based study was conducted in the period 1 January 2001 through 31 December 2002 in the administrative district of Foggia, southern Italy (population 541,653). Cases were traced through hospital discharge diagnosis, botulinum toxin services, day hospital access, ear, nose and throat, ophthalmology and orthopedic surgery specialists, and territorial outpatient services. Inclusion criteria were age 17 years or older, residency in the study area and a diagnosis of primary focal/segmental dystonia. A total of 69 patients were included, giving a crude prevalence of 127.4 per 1,000,000 (women: 146.4; men: 107.0; age 18-34 years: 39.2; 35-54 years: 98.7; 55-74 years: 273.6; 75+ years: 163.3). The standardized rate was 137.5 (95% confidence interval 107.0-174.6). Blepharospasm was the commonest clinical condition (prevalence 68.2), followed by cervical dystonia (prevalence 44.8). The prevalence of primary focal or segmental dystonia in Italy is in keeping with several other reports, but is lower than in studies performed in northern Europe, Minnesota, USA, and Japan. The difference in our results may be mostly explained by misdiagnosis, underascertainment of cases and a fairly limited observation period.Neuroepidemiology 07/2009; 33(2):117-23. · 2.31 Impact Factor -
Article: SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD).
Journal of Neurology 04/2009; 256(7):1177-9. · 3.47 Impact Factor -
Article: Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies.
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ABSTRACT: To describe a case of acute nonherpetic limbic encephalitis (LE) with negative testing for antibodies directed against onconeuronal and cell membrane antigens, including voltage-gated potassium channels and N-methyl-D-aspartate receptor, that showed a dramatic response to immune therapy. A 30-year-old woman manifested generalized seizures, altered consciousness, and memory impairment shortly after a prodromal viral illness. Few days later the patient developed a drug-resistant epileptic status. Electroencephalograph showed bitemporal slowing and paroxysmal slow wave bursts. Brain magnetic resonance imaging showed bilateral swelling in the medial temporal lobes. Cerebrospinal fluid analysis ruled out viral etiologies. A diagnostic search for cancer, including serum testing for known onconeuronal antibodies proved negative. Screening for cell membrane antigen antibodies, including voltage-gated potassium channels and N-methyl-D-aspartate receptor, was also negative. Suspecting an autoimmune etiology, we started an immunomodulatory treatment with intravenous immunoglobulin followed by a short course of oral prednisone, obtaining a full clinical recovery. Our report confirms previous observations of "seronegative" autoimmune LE, suggesting the presence of other, still unknown central nervous system antigens representing a target of a postinfectious, autoimmune response in these patients. Moreover, it emphasizes the importance of early recognition and treatment of acute autoimmune LE, to reduce the risk of intensive care unit-related complications and the occurrence of permanent cognitive or behavioral defects.Cognitive and behavioral neurology: official journal of the Society for Behavioral and Cognitive Neurology 04/2009; 22(1):63-6. · 1.09 Impact Factor -
Article: Glioblastoma in multiple sclerosis: a case report.
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ABSTRACT: Cerebral tumor and multiple sclerosis (MS) relapses can show overlapping clinical and magnetic resonance imaging features. In a previous study we observed in relapsing MS patients increased T-bet, pSTAT1, and pSTAT3 expressions in circulating mononuclear cells. During the data analysis we observed that T-bet, pSTAT1, and pSTAT3 expression was not increased in circulating mononuclear cells from a relapsing-remitting (RR)MS patient with recent onset of new neurological signs due to glioblastoma multiforme. In conclusion, our patient represents an exemplary case which suggests that T-bet, pSTAT1, and pSTAT3 expression in peripheral blood mononuclear cells (PBMCs) might be useful to differentiate MS relapses from other noninflammatory diseases.Journal of Neuro-Oncology 03/2009; 94(1):141-4. · 3.21 Impact Factor -
Article: Transient global amnesia during transoesophageal echocardiogram.
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ABSTRACT: Transient global amnesia (TGA) is a common paroxysmal disorder of episodic memory. The aetiology of TGA is still unknown. Brain ischaemia, migraine, epileptic seizure, venous congestion and psychological disturbances have been proposed as pathological mechanisms. Moreover, different precipitating events are recognised in most TGA patients including physical activity, severe emotional stress, painful experiences, immersion in cold water and sexual intercourse. We describe a 54-year-old woman who presented a TGA immediately after right-left shunt of saline contrast during the execution of transoesophageal echocardiography. Aetiopathological considerations for this uncommon presentation are discussed.Neurological Sciences 12/2008; 29(6):477-9. · 1.32 Impact Factor -
Article: Somatosensory evoked potentials reflect the upper limb motor performance in multiple sclerosis.
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ABSTRACT: The aim of this multicentric study was to multidimensionally evaluate the relationship among somatosensory evoked potentials (SEPs) parameters, patient's perspective and clinical measures of the upper limb impairment in patients with multiple sclerosis (MS). We consecutively enrolled 39 MS patients. For median nerve SEPs we acquired the N9, P14, N20 responses and the N9-P14 and P14-N20 interpeak latencies on the dominant side. We also used a validated patient-oriented questionnaire (Disabilities of the Arm, Shoulder and Hand - DASH) and a test of dexterity quantification as the 9-Hole Peg Test (9-HPT). A significant longer time to complete the 9-HPT (p<0.00006) was observed in patients with abnormal SEPs. Patients with undetectable N20 or P14 responses performed the 9-HPT in a significant longer time than patients with detectable responses (p<0.0006 and p<0.001 respectively). Concerning the perspective of patient (evaluated with the DASH questionnaire) significant differences in patients with undetectable P14 response (p<0.01) were observed. Our data provide further information useful for interpretation of SEPs results, being the median nerve SEPs related to the upper limb performance in MS patients. These data increase the significance of SEPs both in clinical practice and in experimental studies in MS.Journal of the Neurological Sciences 11/2008; 273(1-2):99-102. · 2.35 Impact Factor -
Article: Determinants of change in quality of life from 1 to 6 months following acute stroke--a comment.
Cerebrovascular Diseases 10/2008; 26(4):453-4; author reply 454. · 2.72 Impact Factor -
Article: Effects of rehabilitation on quality of life in patients with chronic stroke.
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ABSTRACT: To evaluate the effects of rehabilitation on disability and quality of life (QoL) in patients with chronic stroke. Research design: This is an observational, prospective and multidimensional study. Sixty-six consecutive inpatients were enrolled. A rehabilitation programme of 2 months consisting of six exercise periods per week was performed. An impairment of cognitive function was the exclusion criteria for patient enrolment. European Stroke Scale, Barthel Index, Modified Rankin Scale, Deambulation Index and SF-36 were performed both before and after rehabilitation. A short-term follow-up (2 months after discharge) was performed by phone administration of SF-36. Significant improvement in clinical and disability measurements was observed after rehabilitation. For QoL, a significant improvement was observed both in physical function and in social function immediately after rehabilitation. At follow-up the social function improvement was maintained, while physical function improvement was lost. The data show that rehabilitation in patients with chronic stroke lessens disability and improves physical and social function and that repeated cycles of treatment are needed to maintain the level of improvement reached.Brain Injury 07/2008; 22(6):451-6. · 1.36 Impact Factor -
Article: Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A.
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ABSTRACT: Quality of life (QoL), as defined by the Short Form 36, has previously been shown to be abnormal in patients with Charcot-Marie-Tooth disease (CMT), both for Physical Composite Scores (PCS) and Mental Composite Scores (MCS). We have now extended these observations in a multicenter evaluation of 89 patients with Charcot-Marie-Tooth disease type 1A, the most common form of CMT. Both the PCS and MCS were abnormal also in this cohort, compared with the Italian population at large. In particular, the ability to ambulate independently as well as toe and heel walk correlated well with QoL measures in our patients.Journal of the Peripheral Nervous System 04/2008; 13(1):64-70. · 2.80 Impact Factor -
Article: Nociceptive contribution to the evoked potentials after painful intramuscular electrical stimulation.
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ABSTRACT: Our study aimed at investigating the nociceptive contribution to the somatosensory evoked potentials after electrical intramuscular stimulation (mSEPs) at painful intensity. Scalp mSEPs were recorded in 10 healthy subjects after electrical stimulation of the left brachioradialis muscle at three intensities: non-painful (I2), slightly painful (I4) and moderately painful (I6). For each intensity, mSEPs were recorded in a neutral condition (NC) in which subjects did not have any task, and in an attention condition (AC) in which subjects were asked to count the number of stimuli. In both NC and AC, the N120 and P220 amplitudes were significantly higher at I6 than at I2. While the N120 amplitude did not vary between NC and AC, the P220 amplitude was significantly higher in AC than in NC at all stimulus intensities. Our results suggest that nociceptive inputs contribute to the N120 amplitude increase at painful stimulus intensity, while the P220 amplitude is more sensitive to changes of subjects' attention level. Therefore, the N120 amplitude increase to moderately painful stimuli, as compared to non-painful stimuli, may represent a marker of the activation of the muscular thin myelinated afferents.Neuroscience Research 03/2008; 60(2):170-5. · 2.25 Impact Factor -
Article: Quality of life assessment in a sample of patients affected by Prader-Willi syndrome.
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ABSTRACT: The goals of this study are to investigate the quality of life of Prader-Willi syndrome patients and to evaluate the relationship between quality of life and the clinical picture. We performed a multicentric study on 40 consecutive patients with Prader-Willi syndrome. Quality of life was evaluated through the Short Form-36 and the Child Health Questionnaire-Parent Form-50 according to the age of patients. In patients older than 14 years old, quality of life is intensely impaired both in mental and physical aspects. Weight at the moment of the observation, birthweight and facial features are the main variables that influence quality of life. In patients who are 14 years old or younger, the Family Activity and Physical scores are lower for those patients with characteristic facial features and in patients with decreased fetal movement or infantile lethargy. Self-esteem is lower in patients with a higher Mini Mental Score. Physical and mental aspects of quality of life are impaired in Prader-Willi patients, weight is the clinical finding which mainly influences negatively the physical aspects of quality of life. However, weight does not cause mental problems. These are mainly due to the presence of characteristic facial features. Interestingly, a high birthweight is associated with less impairment of the mental aspects of quality of life.Journal of Paediatrics and Child Health 01/2008; 43(12):826-30. · 1.28 Impact Factor -
Article: Parallel spinal pathways generate the middle-latency N1 and the late P2 components of the laser evoked potentials.
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ABSTRACT: To investigate the possible presence of multiple spino-thalamic pathways with different conduction velocities (CVs) in the human spinal cord. Laser evoked potentials (LEPs) were recorded in 10 healthy subjects after stimulation of the dorsal midline at four vertebral level: C5, T2, T6, and T10. This method allowed us to minimize the influence of the conduction in the peripheral fibers and to calculate the spinal CV in two different ways: (1) the reciprocal of the slope of the regression line was obtained from the latencies of the different LEP components, and (2) the distance between C5 and T10 was divided by the latency difference of the responses at the two sites. In particular, we considered the middle-latency N1 potential (latencies of around 135, 150, 157, and 171 ms after stimulation at C5, T2, T6, and T10 levels, respectively), which is generated in the second somatosensory (SII) area, and the late P2 response (latencies of around 336, 344, 346, and 362 ms after stimulation at C5, T2, T6, and T10 levels, respectively), which is generated in the anterior cingulate cortex (ACC). The calculated CV of the spinal fibers generating the N1 potential (around 9 m/s) was significantly different (P<0.05) from the one of the pathway producing the P2 response (around 13 m/s). Our results suggest that the N1 and the P2 LEP components are generated by two parallel spinal pathways. Both the N1 and P2 potentials should be recorded in the clinical routine since a dissociated abnormality of either response may be found in lesions of the nociceptive system not only in the brain, but also at spinal cord level.Clinical Neurophysiology 06/2007; 118(5):1097-104. · 3.41 Impact Factor
Top co-authors
Top Journals
Institutions
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2011
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Istituto di Ricerche Farmacologiche Mario Negri
Milano, Lombardy, Italy
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2003–2011
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Fondazione Don Carlo Gnocchi
Acquaviva delle Fonti, Apulia, Italy
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1992–2011
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Università Cattolica del Sacro Cuore
- Institute of Neurology
Roma, Latium, Italy
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2009
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Sacred Heart University
Fairfield, CT, USA
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2008
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Università Degli Studi Roma Tre
Roma, Latium, Italy
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1992–2007
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Ospedale Pediatrico Bambino Gesù
- Unità Operativa di Neurologia
Roma, Latium, Italy
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2005
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Ospedale di San Raffaele Istituto di Ricovero e Cura a Carattere Scientifico
Milano, Lombardy, Italy
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1992–2004
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The Catholic University of America
Washington, D. C., DC, USA
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