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Movement Disorders 02/2013; · 4.51 Impact Factor
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Michela Catteruccia,
Fabiana Fattori,
Valentina Codemo,
Lucia Ruggiero,
Lorenzo Maggi,
Giorgio Tasca,
Chiara Fiorillo,
Marika Pane,
Angela Berardinelli,
Margherita Verardo,
Cinzia Bragato,
Marina Mora,
Lucia Morandi,
Claudio Bruno, Lucio Santoro,
Elena Pegoraro,
Eugenio Mercuri,
Enrico Bertini,
Adele D'Amico
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ABSTRACT: Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease.
Neuromuscular Disorders 02/2013; · 2.80 Impact Factor
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ABSTRACT: OBJECTIVE: The number of patients in prolonged postanoxic vegetative state (VS) is increasing. However, little information is available about prognostic markers of long-term outcome in patients who remain in VS more than 1 month postonset. The present 2-year prospective clinical study aimed to identify prognostic markers, recorded in the chronic phase, that might be useful for predicting recovery of responsiveness in a cohort of postanoxic VS patients. METHODS: We enrolled 43 inpatients with prolonged anoxic VS (23 female; age range 12-83 years). We collected data about medical history, clinical findings, and neurophysiological assessments at study entry (1-6 months postonset), and assessed their relationships with outcome at 24 months postonset; for defining outcome, patients were classified as responsive or unresponsive on the basis of clinical criteria and on Coma Recovery Scale-Revised (CRS-R). RESULTS: Nine patients had recovered responsiveness (but 2 of them died after awakening), whereas 12 patients remained in VS and 22 had died in VS. Functional abilities were severely affected in all responsive survivors. Responsive patients were significantly younger and showed higher CRS-R total score and lower Disability Rating Scale score at study entry than patients who did not recover. All responsive survivors had spared pupillary light reflex and nociceptive response, and paroxysmal sympathetic hyperactivity. Logistic regression analysis showed that the presence of median nerve somatosensory evoked potentials and CRS-R total score ≥6 were significant predictors of recovery of responsiveness. CONCLUSIONS: Clinical features and evoked potentials are useful predictors of long-term recovery of responsiveness in patients with prolonged postanoxic VS.
Neurology 01/2013; · 8.31 Impact Factor
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ABSTRACT: Processing of time in the millisecond range seems to depend on cerebellar function and it can be assessed by using the somatosensory temporal discrimination threshold testing. No studies have yet investigated this temporal discrimination task in patients with cerebellar atrophy. Eleven patients with degenerative cerebellar ataxia and 11 controls underwent somatosensory temporal discrimination threshold evaluation. The degree of cerebellar dysfunction was measured by the International Cooperative Ataxia Rating Scale. Somatosensory temporal discrimination threshold was higher in patients compared to controls for each stimulated site (hand, neck, and eye). Age, disease duration, and International Cooperative Ataxia Rating Scale scores were not correlated to somatosensory temporal discrimination threshold. Somatosensory temporal discrimination threshold is abnormal in patients with cerebellar atrophy. These findings suggest that the cerebellum plays a role in modulating the somatosensory temporal discrimination threshold and confirm the role of cerebellum in the processing of time in the millisecond range.
The Cerebellum 01/2013; · 3.21 Impact Factor
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ABSTRACT: Ross syndrome is a rare autonomic disorder described by Ross in 1958(1) and characterized by tonic pupil, hyporeflexia, and segmental anhidrosis. A postganglionic cholinergic nerve degeneration of unknown cause underlies this condition(2) although erratic association with Sjögren(3) and antinuclear antibody(4) positivity has led some authors to hypothesize immunologic causes. Familial cases have not been reported.
Neurology 01/2013; · 8.31 Impact Factor
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Fiore Manganelli,
Chiara Pisciotta,
Raffaele Dubbioso,
Valerio Maruotti,
Rosa Iodice,
Francesca Notturno,
Lucia Ruggiero,
Carmine Vitale,
Maria Nolano,
Antonino Uncini, Lucio Santoro
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ABSTRACT: Some evidences highlighted a higher clinical expression of hereditary neuropathy with liability to pressure palsy (HNPP) in males, and a higher load of traumatic nerve injuries due to different occupational activity has been invoked to explain this observation. It is unknown whether this increased clinical impairment corresponds to a greater electrophysiological involvement. Thus, we compared clinical and electrophysiological features between men and women in a large cohort of HNPP patients. Nerve palsies and electrophysiological abnormalities were more frequent in men, and electrophysiological findings which differentiated males from females did not show any age-related worsening. In conclusion, our findings showed a higher clinical and electrophysiological involvement in males which does not seem related to different cumulative nerve damage over time. We believe that the higher disease expression may increase the chance to detect the disease in males and, thereby, to underestimate the HNPP diagnosis in females.
Neurological Sciences 12/2012; · 1.32 Impact Factor
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Giovanni Defazio,
Angelo Fabio Gigante,
Giovanni Abbruzzese,
Anna Rita Bentivoglio,
Carlo Colosimo,
Marcello Esposito,
Giovanni Fabbrini,
Arianna Guidubaldi,
Paolo Girlanda,
Rocco Liguori,
Lucio Marinelli,
Francesca Morgante, Lucio Santoro,
Michele Tinazzi,
Paolo Livrea,
Alfredo Berardelli
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ABSTRACT: OBJECTIVE: To investigate the frequency and the main clinical features of tremor in primary adult-onset dystonia (PAOD). METHODS: This cross-sectional study was conducted on 429 patients with PAOD from eight Italian movement disorder centres. RESULTS: Of the 429 dystonic patients, 72 (16.7%) had tremor. Although sex and age at dystonia onset were similar in dystonic patients who had tremor and those who did not, patients who had tremor were affected more often by focal cervical dystonia and less often by focal blepharospasm. Dystonia had a greater tendency to spread in patients with tremor. According to the Movement Disorder Society Consensus Statement, tremor was classified as dystonic tremor (DT) in 43 patients and tremor associated with dystonia (TAWD) in 23 patients. Six patients had both types of tremor. Taking into account potential confounding by age at onset and body distribution of the corresponding dystonia type, all the clinical features in patients with DT and in those with TAWD were comparable except the tendency of dystonia to spread, which was greater in patients with DT. CONCLUSIONS: Tremor is a relatively common feature occurring in about 17% of patients with primary late-onset dystonia. The association between tremor and dystonia spread suggests that this form of tremor may be a dystonic manifestation. Similarities in phenotypic features of DT and TAWD predominated over differences, suggesting that the two forms of tremor may be manifestations of the same disease. Differences in gender and body distribution of tremor between patients with dystonia and tremor and those of patients with essential tremor also suggest that tremor in dystonia and essential tremor are different entities.
Journal of neurology, neurosurgery, and psychiatry 11/2012; · 4.87 Impact Factor
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ABSTRACT: The morphology of cutaneous sensory and autonomic innervation in human trigeminal territory is still unknown. The aim of this study is to describe facial cutaneous innervation using skin biopsy. This new tool could be useful in understanding the mechanisms underlying several facial pain conditions. In 30 healthy subjects, we quantified epidermal nerve fibers (ENFs) and dermal myelinated fibers (MFs) in V1, V2 and V3, using indirect immunofluorescence and confocal microscopy applied to 2-mm punch skin biopsies from areas adjacent to the eyebrow, upper and lower lip. Using selective markers, we also evaluated the distribution of peptidergic, cholinergic and noradrenergic fibers. Facial skin appeared abundantly innervated and rich in annexes. The ENF density decreased and the MF density increased, moving from the supraorbital to the perioral skin. Noradrenergic sudomotor fibers were particularly and constantly expressed compared with other body sites. Distribution of vasoactive intestinal peptide-immunoreactive (VIP-ir) fibers appeared peculiar for their constant presence in the subepidermal neural plexus - in close contact, but without colocalization with calcitonin gene related peptide (CGRP) and substance P (Sub-P)-ir fibers. Finally, in perioral skin samples, we observed striated muscle fibers with their motor nerves and motor endplates. Our work provides the first morphological study of human facial cutaneous innervation, highlighting some unique features of this territory. Quantification of unmyelinated and myelinated fibers on 2-mm punch biopsies appeared to be feasible and reliable. Facial skin biopsy may be a new approach with which to study and to better characterize facial pain syndromes.
Journal of Anatomy 10/2012; · 2.37 Impact Factor
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ABSTRACT: We report the clinical, electrophysiological, and skin biopsy findings of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family with a novel heterozygous GDAP1 mutation. We observed a marked intra-familial phenotypic variability, in age at onset and disease severity which ranged from a typical CMT phenotype to an asymptomatic status. Electrophysiological study, consistent with an axonal sensory-motor neuropathy, confirmed a different degree of severity and disclosed minimal electrophysiological abnormalities also in the asymptomatic subjects. Skin biopsy findings showed a variable loss of large and small somatic nerve fibers. Molecular analysis identified a novel heterozygous missense mutation (Arg120Gly) in the GDAP1 gene which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the GDAP1 autosomal dominant mutations underlie a pronounced phenotypic variability, mimicking the effects of reduced penetrance. Notably, electrophysiological study in this family allowed to reveal hidden positive family history and assess a dominant inheritance pattern, revealing subclinical neuropathy in asymptomatic mutation carriers.
Journal of the Peripheral Nervous System 09/2012; 17(3):351-5. · 2.80 Impact Factor
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ABSTRACT: We describe the first Italian family affected by CMT2B carrying a Val162Met substitution in the RAB7 gene. The clinical and electrophysiological features of our family are similar to those of previously reported families with RAB7 mutations, also for the higher occurrence of ulcers in males. However, in this family we evaluated the autonomic nervous system, never investigated in CMT2B, by means of skin biopsy and sudomotor and cardiovascular tests. Our findings provide both pathological and functional evidence of autonomic nervous system involvement in CMT2B and expand the phenotypic characterization of CMT2B disease.
Journal of the Peripheral Nervous System 09/2012; 17(3):361-4. · 2.80 Impact Factor
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Maria Teresa Pellecchia,
Gabriella Santangelo,
Marina Picillo,
Rosario Pivonello,
Katia Longo,
Claudia Pivonello,
Carmine Vitale,
Marianna Amboni,
Anna De Rosa,
Marcello Moccia,
Roberto Erro,
Giuseppe De Michele, Lucio Santoro,
Annamaria Colao,
Paolo Barone
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ABSTRACT: Epidermal growth factor (EGF) has been proposed as a candidate biomarker for cognitive impairment in Parkinson's disease (PD). We aimed to assess the relationship between serum EGF and cognitive functions in early, drug-naive PD patients and evaluate the predictive value of EGF on cognitive functions in a 2-year follow-up study. Serum EGF was measured in 65 early, drug-naive PD patients, that underwent a comprehensive neuropsychological battery. Motor symptoms were assessed by means of the Unified Parkinson's Disease Rating Scale, Part III (UPDRS-III). Neuropsychological evaluation was repeated after 2 years. Spearman's rank correlation was used to assess the relationship between serum EGF levels and neuropsychological variables. Linear regression analysis was used to evaluate the relationship between EGF and neuropsychological scores as well as other variables (age, gender, UPDRS-III, levodopa equivalent dose, and type of treatment at follow-up) potentially affecting cognitive performance. Variation over time in cognitive scores was analyzed using repeated-measures ANOVA. At baseline, EGF was the only significant variable associated with performance on semantic fluency (R (2) = 0.131; p = 0.005). EGF levels (p = 0.025), together with UPDRS-III (p = 0.009) and age (p = 0.011), were associated with performance on frontal assessment battery (R (2) = 0.260). At 2-year follow-up, EGF was the only significant variable to predict performance on semantic fluency (R (2) = 0.147; p = 0.025) and color naming task of Stroop color-word test (R (2) = 0.121; p = 0.044). Serum EGF levels are related to frontal and temporal cognitive functions in early, drug-naive PD patients and predict performance on frontal and posterior cognitive functions at 2-year follow-up. EGF is proposed as a potential serum biomarker for early cognitive impairment in PD.
Journal of Neurology 08/2012; · 3.47 Impact Factor
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Davide Martino,
Alfredo Berardelli,
Giovanni Abbruzzese,
Anna Rita Bentivoglio,
Marcello Esposito,
Giovanni Fabbrini,
Arianna Guidubaldi,
Paolo Girlanda,
Rocco Liguori,
Lucio Marinelli,
Francesca Morgante, Lucio Santoro,
Giovanni Defazio
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ABSTRACT: The site of dystonia onset is known to affect the risk of spread in primary adult-onset focal dystonia, but other factors possibly influencing spread are unknown. This study explored the relationship between age and spread of dystonia in primary adult-onset focal dystonia.
Two survival models analyzed spread of dystonia in a large cohort of patients with primary blepharospasm (BSP) and cervical dystonia. The first model was based on time interval between onset and spread of dystonia, and the second model was based on age at spread.
Patients presenting with BSP had a 2-fold higher rate of spread than those presenting with cervical dystonia, regardless of the survival model used. However, survival analysis, based on age at spread, showed that spread develops at a similar age period in both groups, with most spread events occurring after the age of 50.
The convergent age of spread in BSP and cervical dystonia is a novel finding indicating age as a factor modulating spread of dystonia. These findings may assist in informing prognostication for patients with primary adult-onset focal dystonia. © 2012 Movement Disorder Society.
Movement Disorders 08/2012; 27(11):1447-50. · 4.51 Impact Factor
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ABSTRACT: We recently demonstrated that familial and sporadic blepharospasms share several phenotypic features (including age of dystonia onset, sex, and tendency to spread) believed to reflect the etiology of a blepharospasm. To investigate whether familial and sporadic forms of primary adult-onset dystonia other than the blepharospasm also share phenotypic features, we studied the families of 98 probands with primary adult-onset dystonia other than blepharospasms using a validated two-step procedure (questionnaire and clinical examination) that yields 95 % sensitivity and 100 % specificity when used to identify dystonia among relatives. The 98 probands provided a population of 402 living first-degree relatives aged 20 years or more, 336 of whom (83 %, 111 parents, 152 siblings, and 73 children) were screened for dystonia. The screening procedure identified 26 affected relatives (five parents, 16 siblings, and five children; 11 men/15 women; age at dystonia onset, 51 ± 11.7 years) from 24/98 families (25 %). No causes of secondary dystonia were found in the relatives who suffered from various forms of dystonia. When familial and sporadic patients were compared, no significant differences emerged in age, education, family size, sex distribution, age at dystonia onset, or tendency to spread. The phenotypic overlap we observed between the study groups suggests that familial and sporadic patients with primary adult-onset dystonia other than blepharospasm probably share a common etiological background.
Journal of Neurology 05/2012; · 3.47 Impact Factor
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Eduardo Nobile-Orazio,
Dario Cocito,
Stefano Jann,
Antonino Uncini,
Ettore Beghi,
Paolo Messina,
Giovanni Antonini,
Raffaella Fazio,
Francesca Gallia,
Angelo Schenone,
Ada Francia,
Davide Pareyson, Lucio Santoro,
Stefano Tamburin,
Roberta Macchia,
Guido Cavaletti,
Fabio Giannini,
Mario Sabatelli
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ABSTRACT: Intravenous immunoglobulin (IVIg) and corticosteroids are effective as initial treatment in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but little is known about the comparative risk-benefit profile of their long-term use in this disease. We compared the efficacy and tolerability of 6-month therapy with IVIg versus that with intravenous methylprednisolone.
We did a multicentre, randomised, double-blind, placebo controlled, parallel-group study in patients with CIDP. We assessed efficacy and tolerability of IVIg (0·5 g/kg per day for 4 consecutive days) and intravenous methylprednisolone (0·5 g in 250 mL sodium chloride solution per day for 4 consecutive days) given every month for 6 months. Eligible patients had to be in an active or stationary phase of the disease. Allocation to treatment was centrally managed with a computer-generated, 1:1 randomisation scheme with a sequential block size of four. All patients and assessors were unaware of the treatment assignment. After therapy discontinuation, patients were followed up for 6 months to assess relapses. The primary outcome was the difference in the number of patients discontinuing either therapy owing to inefficacy or intolerance. Secondary endpoints included the difference in the proportion of patients experiencing adverse events or worsening after therapy discontinuation. This study is registered with EUDRACT, number 2005-001136-76.
45 patients (24 IVIg, 21 intravenous methylprednisolone) completed the study; one was excluded for inappropriate inclusion. More patients stopped methylprednisolone (11 [52%] of 21) than IVIg (three [13%] of 24; relative risk 0·54, 95% CI 0·34-0·87; p=0·0085). When adjusted for sex, age, disease duration, comorbidity, modified Rankin scale and ONLS scores at enrolment, and previous treatment with IVIg and steroids, the difference between the two groups remained significant (odds ratio 7·7, 95% CI 1·7-33·9; p=0·0070). Reasons for discontinuation were lack of efficacy (eight in the methylprednisolone group vs three in the IVIg group), adverse events (one in the methylprednisolone group), or voluntary withdrawal (two in the methylprednisolone group). Two patients on IVIg died during follow-up after the 6-month assessment. The proportion of patients with adverse events did not differ between the intravenous methylprednisolone group (14 [67%] of 21) and the IVIg group (11 [46%] of 24; p=0·1606). After therapy discontinuation, more patients on IVIg worsened and required further therapy (eight [38%] of 21) than did those on methylprednisolone (none of ten; p=0·0317).
Treatment of CIDP with IVIg for 6 months was less frequently discontinued because of inefficacy, adverse events, or intolerance than was treatment with intravenous methylprednisolone. The longer-term effects of these treatments on the course of CIDP need to be addressed in future studies.
Kedrion.
The Lancet Neurology 05/2012; 11(6):493-502. · 23.46 Impact Factor
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Isabella Scionti,
Francesca Greco,
Giulia Ricci,
Monica Govi,
Patricia Arashiro,
Liliana Vercelli,
Angela Berardinelli,
Corrado Angelini,
Giovanni Antonini,
Michelangelo Cao, [......],
Carmelo Rodolico,
Lucia Ruggiero, Lucio Santoro,
Gabriele Siciliano,
Giuliano Tomelleri,
Carlo Pietro Trevisan,
Giuliana Galluzzi,
Woodring Wright,
Mayana Zatz,
Rossella Tupler
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ABSTRACT: Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families.
The American Journal of Human Genetics 04/2012; 90(4):628-35. · 10.60 Impact Factor
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Roberto Erro,
Gabriella Santangelo,
Marina Picillo,
Carmine Vitale,
Marianna Amboni,
Katia Longo,
Angela Costagliola,
Maria Teresa Pellecchia,
Roberto Allocca,
Anna De Rosa,
Giuseppe De Michele, Lucio Santoro,
Paolo Barone
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ABSTRACT: Little is known about the relationship between cognitive dysfunctions and the non-motor complex in subjects with newly diagnosed untreated Parkinson's disease (PD). The aim of this study was to explore the association between non-motor symptoms (NMS) and cognitive dysfunctions in an incident cohort of de novo, drug-naive, PD patients. Sixty-six non-demented, early, untreated PD patients completed a semi-structured interview on NMS and a battery of neuropsychological tests that assess verbal memory, visuospatial abilities, and attention/executive functions. Scores were age- and education-corrected. Patients who failed at least two tests for each cognitive domain were diagnosed as having mild cognitive impairment (MCI). All but three (95.4%) PD patients complained of at least one NMS. A total of 37.8% was diagnosed with MCI. There was a relationship between sleep-NMS and cognitive dysfunctions. Specifically, both REM behavioral sleep disorders (RBD) and insomnia were associated with lower scores on several cognitive tests. Moreover, RBD was closely related to MCI. NMS and MCI are very common even in the early phase of PD, before patients are treated. Given the correlation between sleep disturbances and cognitive impairment, it is possible that sleep symptoms in PD patients might be considered as an early marker of dementia.
Journal of Neurology 02/2012; 259(9):1808-13. · 3.47 Impact Factor
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Isabella Scionti,
Greta Fabbri,
Chiara Fiorillo,
Giulia Ricci,
Francesca Greco,
Roberto D'Amico,
Alberto Termanini,
Liliana Vercelli,
Giuliano Tomelleri,
Michelangelo Cao, Lucio Santoro,
Antonio Percesepe,
Rossella Tupler
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ABSTRACT: Background Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disease with a prevalence of 1 in 20 000. Almost all patients with FSHD carry deletions of integral copies of tandem 3.3 kb repeats (D4Z4) located on chromosome 4q35. However, FSHD families have been reported in which individuals carrying a D4Z4-reduced allele remain asymptomatic. Recently, it has been proposed that the D4Z4-reduced allele is pathogenic only in association with the permissive haplotype, 4APAS. Methods and results Through the Italian National Registry for FSHD (INRF), genotype-phenotype correlations were extensively studied in 11 non-consanguineous families in which two D4Z4-reduced alleles segregate. Overall, 68 subjects carrying D4Z4-reduced alleles were examined, including 15 compound heterozygotes. It was found that in four families the only FSHD-affected subject was the compound heterozygote for the D4Z4-reduced allele, and 52.6% of subjects carrying a single D4Z4-reduced 4A161PAS haplotype were non-penetrant carriers; moreover, the population frequency of the 4A161PAS haplotype associated with a D4Z4-reduced allele was found to be as high as 1.2%. Conclusions This study reveals a high frequency of compound heterozygotes in the Italian population and the presence of D4Z4-reduced alleles with the 4A161PAS pathogenic haplotype in the majority of non-penetrant subjects in FSHD families with compound heterozygosity. These data suggest that carriers of FSHD-sized alleles with 4A161PAS haplotype are more common in the general population than expected on the basis of FSHD prevalence. These findings challenge the notion that FSHD is a fully penetrant autosomal dominant disorder uniquely associated with the 4A161PAS haplotype, with relevant repercussions for genetic counselling and prenatal diagnosis.
Journal of Medical Genetics 01/2012; 49(3):171-8. · 6.36 Impact Factor
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Giovanni Defazio,
Giovanni Abbruzzese,
Maria Stella Aniello,
Roberta Di Fede,
Marcello Esposito,
Giovanni Fabbrini,
Paolo Girlanda,
Rocco Liguori,
Lucio Marinelli,
Davide Martino,
Francesca Morgante, Lucio Santoro,
Michele Tinazzi,
Alfredo Berardelli
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ABSTRACT: Using a validated questionnaire, we screened eye symptoms (burning sensation, grittiness, dry eye) in 333 first-degree relatives of 140 probands with different forms of primary adult-onset dystonia, 208 healthy subjects, and 293 patients with primary blepharospasm.
The rate of eye symptoms was similar in the relatives of focal dystonia patients and in healthy subjects (adjusted HR, 1.1; 95% CI, 0.7-1.7; P = .69), thus suggesting a common origin of eye symptoms in both groups. A higher rate was observed in blepharospasm patients (adjusted HR, 2; 95% CI, 1.4-2.9; P < .0001). Relatives of focal dystonia patients who developed blepharospasm were more likely to have preceding eye symptoms than were relatives who developed focal dystonia other than blepharospasm (BSP) or relatives who did not develop dystonia.
Eye symptoms reported by relatives of patients with focal dystonia probably result from eye diseases and are not part of the clinical spectrum of blepharospasm.
Movement Disorders 12/2011; 27(2):305-7. · 4.51 Impact Factor
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ABSTRACT: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder caused by a small expansion of a short polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). It presents with adult onset of progressive eyelid drooping, swallowing difficulties and proximal limb weakness, usually without involvement of central nervous system (CNS). However, cognitive decline with relevant behavioural and psychological symptoms has been recently described in homozygous patients. In this study, we performed for the first time an extensive neuropsychological and neuropsychiatric evaluation on 11 OPMD heterozygote patients. We found that they were less efficient than a matched control sample on several tests, particularly those tapping executive functions. Moreover, the presence of negative correlation between GCN expansion size and some neuropsychological scores raises the issue that CNS involvement might be linked to the genetic defect, being worse in patients with larger expansion. Our results might be consistent with the toxic gain-of-function theory in the pathogenesis of OPMD and hint at a possible direct role of PABPN1 in the CNS also in heterozygote patients.
Journal of Neurology 09/2011; 259(5):833-7. · 3.47 Impact Factor
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ABSTRACT: To evaluate postganglionic autonomic and somatic nerve fiber involvement in a patient with chronic autoimmune autonomic ganglionopathy.
Case report.
Department of Neurological Sciences, University Federico II of Naples.
A patient with a 16-year history of severe autonomic failure and a high nicotinic acetylcholine receptor antibody titer underwent an extensive laboratory evaluation.
Evaluation of sympathetic and parasympathetic functions and sural nerve and skin biopsies.
Clinical and laboratory evaluations showed the involvement of cardiovascular, pupillary, sudomotor, gastrointestinal, and bladder functions. Sudomotor function study and skin biopsy findings revealed postganglionic autonomic damage. Moreover, sural nerve and skin biopsy specimens provided clear evidence of somatic nerve fiber involvement.
We demonstrated postganglionic autonomic damage that could be related to a prolonged and severe impaired synaptic transmission and we report, for the first time to our knowledge, a somatic nerve fiber involvement in autoimmune autonomic ganglionopathy.
Archives of neurology 04/2011; 68(4):504-7. · 6.31 Impact Factor
