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Vito Sofia

Publications and source records attributed to Vito Sofia.

6 recordsLinked to original sources
PubMed2006

Clinical and genetic findings in 26 Italian patients with Lafora disease.

PURPOSE: EPM2B mutations have been found in a variable proportion of patients with Lafora disease (LD). Genotype-phenotype correlations suggested that EPM2B patients show a slower course of the disease, with delayed age at death, compared with EPM2A patients. We herein report clinical and genetic findings of 26 Italian LD patients. METHODS: Disease progression was evaluated by means of a disability scale based on residual motor and cognitive functions and daily living and social abilities, at 4 years from the onset. Mutational analysis was performed by sequencing the coding regions of the EPM2A and EPM2B genes. RESULTS: Age at onset ranged from 8.5 to 18.5 years (mean, 13.7+/-2.6). The mean duration of follow-up was 7.1+/-3.9 years. Daily living activities and social interactions were preserved in five of 24 patients. The remaining patients showed moderate to extremely severe limitations of daily living and social abilities. Sixteen (72%) of 22 families showed mutations in the EPM2B gene, and five (22%), in the EPM2A gene. One family showed no mutations. A novel EPM2B mutation also was identified. CONCLUSIONS: In our series, EPM2B mutations occurred in 72% of families, thus indicating that EPM2B is the major gene for LD in the Italian population. Moreover, we found that six of 17 EPM2B patients preserved daily living activities and social interactions at 4 years from onset, suggesting a slow disease progression. Additional clinical and functional studies will clarify whether specific mutations may influence the course of the disease in LD patients.

Activities of Daily Living↗
PubMed2005

Epilepsy and neurocysticercosis in rural Bolivia: a population-based survey.

PURPOSE: To evaluate the frequency of neurocysticercosis (NCC) in a well-defined prevalent cohort of epilepsy patients in the rural area of the Cordillera province. METHODS: We carried out a two-phase door-to-door neuroepidemiologic survey in a sample of 10,124 subjects in a rural area of the Cordillera Province, Bolivia, to detect the prevalence of the most common neurologic disorders including epilepsy. A team of health workers administered a standard screening instrument for neurologic diseases; subjects found positive at the screening phase underwent a complete neurologic examination. Epilepsy patients were diagnosed according to the definition proposed by the International League Against Epilepsy (ILAE, 1993). Epilepsy patients identified this way underwent electroencephalographic recording, computed tomography (CT) scan, and serologic evaluation to detect antibodies against Taenia solium by enzyme-linked immunoelectrotransfer blot. RESULTS: At the end of the survey, we detected 124 defined prevalent epilepsy patients. On the basis of the classification proposed by the ILAE in 1981, partial seizures were the most common type diagnosed (66 patients, 53.3%). Of the 124 patients, 105 underwent CT scan, and a serum sample was taken to detect antibodies against T. solium in 112 patients; for 97 patients, both neuroradiologic and serologic data were available. Considering radiologic, serologic, and clinical features, of these 124 patients, 34 (27.4%) fulfilled the diagnostic criteria for definitive or probable NCC proposed in 2001. Of these 34 patients 24 (70.6%) had partial seizures. CONCLUSIONS: Our data confirm a high frequency of NCC among a well-defined prevalent cohort of epilepsy patients.

Bolivia↗
PubMed2003

Epilepsy and multiple sclerosis in Sicily: a population-based study.

PURPOSE: To evaluate the association between epilepsy and multiple sclerosis (MS), we analyzed the incidence of epilepsy in a population-based incidence cohort of MS in Catania, Sicily. METHODS: According to Poser's diagnostic criteria, 170 incident cases of MS have been identified from 1975 to 1994 in the city of Catania. All these subjects underwent a complete neurological examination to confirm the diagnosis of MS and to identify those patients with a history of seizures. Diagnosis of epilepsy was based on the criteria proposed by the International League Against Epilepsy (ILAE) in 1993, and seizures were classified according to the classification of the ILAE, 1981. RESULTS: From 1975 to 1994, 170 subjects with MS had the clinical onset of the disease. The mean annual incidence of MS was 2.3/100,000 (95% CI, 2.0-2.6). Of the 170 defined MS patients, four developed epilepsy after the onset and also diagnosis of MS, giving an incidence rate of epilepsy of 285/100,000 person years at risk (95% CI, 119-684) and 147.8/100,000 when age adjusted to the world standard population. The cumulative risk of developing epilepsy after the onset of MS, evaluated by using the life-table methods, was zero at 1 year and 1.76% at 5 years. Of these four patients, three were classified as having partial seizures with secondary generalization and one with tonic-clonic seizures. CONCLUSIONS: Our data are consistent with those reported in literature suggesting that the risk of developing epilepsy is threefold higher among MS patients than in the general population.

Adolescent↗
PubMed2003

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.

PURPOSE: [corrected] To describe the clinical and genetic findings of seven additional pedigrees with autosomal dominant lateral temporal epilepsy (ADLTE). METHODS: A personal and family history was obtained from each affected and unaffected member, along with a physical and neurologic examination. Routine and sleep EEGs, computed tomography (CT), or magnetic resonance imaging (MRI) were performed in almost all the patients. DNAs from family members were typed with several microsatellite markers localized on either side of LGI1 at 10q24 and screened for LGI1 mutations. RESULTS: The seven families included a total of 34 affected individuals (10 deceased). The age at onset ranged between 8 and 50 years (average, 22 years). Twenty-six patients had clear-cut focal (elementary, complex, or secondarily generalized) seizures, characterized by prominent auditory auras in 68% of the cases. Less frequent ictal symptoms were visual, psychic, or aphasic seizures, the latter occurring in isolation in one family. The attacks were rare and well controlled by antiepileptic drug treatment but recurred after drug discontinuation. Interictal EEGs were usually unrevealing. MRI or CT scans were negative. Analysis of LGI1/Epitempin exons failed to show mutations in three pedigrees. Linkage analysis strongly suggested exclusion of linkage in one of these families. We found two novel missense mutations, a T-->C substitution in exon 6 at position 598, and a T-->A transition in exon 8 at position 1295, the latter being detected in a family with aphasic seizures. CONCLUSIONS: Our data confirm the inclusion of aphasic seizures within the ADLTE clinical spectrum, suggest the existence of locus heterogeneity in ADLTE, and provide new familial cases with LGI1 missense mutations associated with the disease.

Adolescent↗