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A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence for linkage to chromosome 13qter with a maximum logarithm-of-the-odds score of 3.16, from multipoint analysis, with marker D13S285.

Objective:To report on five patients with temporal lobe epilepsy (TLE) as the unique manifestation of multiple sclerosis (MS).Methods:Among 350 consecutive MS patients, we identified 16/350 (4.6%) who also had epileptic seizures. Here, we review their electrophysiological and clinical features.Results:Five of these 16 patients (four female, one male; mean age 34.2 years; range 31 to 38) with MS and epileptic seizures had an extremely homogeneous clinical picture characterized by TLE as the unique manifestation of MS, even at long follow-up (mean: five years; range 4 to 10). In all patients, seizures started in the second or third decade. Brain MRI revealed at least one juxta-cortical lesion within the temporal region. Antiepileptic medication was always effective.Conclusions:The present study provides the first evidence of a peculiar form of MS characterized by TLE as the unique manifestation of the disease with no disability or MS relapses at long-term follow-up.

L-dopa 100 mg plus benserazide 25 mg versus placebo were given 3 times daily to 14 consecutive patients with dementia and rigidity. The treatment was crossed over to the alternative therapy after a 7-day period. Despite a mean 60% raise in CSF-HVA during L-dopa administration, no patient responded to the treatment. These data suggest that dementia-associated rigidity differs, at least, pharmacologically from parkinsonian rigidity.

Objective:To compare mild vs. severe non-lesional temporal lobe epilepsy (TLE).Methods:Data from 104 consecutive patients with non-lesional TLE were reviewed. Seventy-three of the 104 fulfilled the criteria for inclusion in this study of a follow-up period longer than three years at our Institute. Patients were considered to have a mild TLE if they were seizure free for at least three years after appropriate antiepileptic medication, or had rare (≤ 2/year) complex partial or secondarily generalized seizures for at least three years with or without appropriate antiepileptic therapy. Clinical, EEG and MRI data of mild vs. severe non-lesional TLE patients were compared on the basis of a cross-sectional study design.Results:Of the 73 patients with non-lesional TLE included in the study, 43 (59%) had mild TLE, and 30 (41%) had severe TLE. Duration of epilepsy was significantly shorter (mean 15.2 ± 10.5 years vs. 26.4 ± 13.2 years) and age at onset was significantly higher (mean 34.3 ± 15.3 years vs. 7.8 ± 6.8 years) in mild than in severe TLE group. Patients with mild TLE had also a significantly higher prevalence of positive family history of epilepsy (37.2% vs. 10%), and a significantly lower occurrence rate of febrile convulsions (FC) (4.7% vs. 33.3%), mesial temporal sclerosis (MTS) (6.9% vs. 36.7%), and intelligence deficiency (0% vs. 20%). In mild TLE there was also a significantly high rate (58.1% vs. 0%) of delayed diagnosis (from 1 to 28 years), because of misdiagnosis (39.5%) or no medical counseling (18.6%).Conclusions:Mild non-lesional TLE is a common, unrecognized disorder mainly characterized by both onset in adulthood and high prevalence of familial history of epilepsy. The present findings suggest that mild non-lesional TLE may represent a clinical entity different from severe non-lesional TLE.