Isolated continuous lingual myoclonus is an exceptional entity, poorly documented and understood. A patient with a nonepileptic continuous rhythmical myoclonus, affecting the anterior portion of the tongue, as an independent involuntary disorder, is reported. Electromyography showed low frequency (2-4 Hz) bursts of genioglossus muscles activity. The EEG, visual, auditory and somatosensory evoked responses were normal. Imaging techniques like CT and MRI failed to reveal any brainstem or cerebellar lesion. Lingual myoclonus showed a very good response to sodium valproate.

a b s t r a c tObjective: To elaborate a brief but efficient neuropsychological assessment of frontotemporal dementia (FTD), selecting the most specific and sensitive cognitive and behavioural items for distinguish between AD and FTD in the earlier dementia stages. Methods: Retrospective study with three groups, 35 patients with FTD, 46 with AD and 36 normal subjects, were administered the MMSE, FAB, Tower of London and Stoop's test along with a 98 items behavioural and cognitive questionnaire. The most sensitive items were selected and validated internally for diagnosis by lineal discriminant analysis. Results: From the 98 items in the questionnaire, 29 showed significant discriminatory power. Noncognitive symptoms with higher odd-ratio for FTD compared to AD were impairment in social behaviour (disinhibition, aggressiveness), loss of insight and inappropriate acts. Language disorders, such as echolalia, verbal apraxia or aggramatism, dominate in the cognitive profile of FTD. FAB was confirmed as the best cognitive instrument to differentiate FTD and AD. A linear discriminant function with the combination of the FAB score and the items from our questionnaire with higher OR for FTD accurately classified 97% of individuals. Conclusions: The neuropsychological tests allow the differentiation between FTD and AD. The combination of FAB test with the assessment of key behavioural and cognitive symptoms appears helpful in this distinction.

Sneddon's syndrome is a disease characterized by livedo reticularis and cerebrovascular lesions, with a hereditary transmission and unknown etiopathogenesis. A number of reports have documented a link between antiphospholipid antibodies and Sneddon's syndrome with different results. The present work was designed to sequentially study antiphospholipid antibodies in a patient with Sneddon's syndrome and her family and their potential role in thrombotic events. We used cardiolipin and a mixture of phospholipids from rabbit brain as antigen for antiphospholipid assays to determine diagnostic usefulness. A patient with Sneddon's syndrome and 12 available family members belonging to three generations were evaluated to determine the presence of antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies) during vascular thrombotic events and asymptomatic periods. Our results support a temporal relation between thrombotic events in Sneddon's syndrome and lupus anticoagulant; anticardiolipin antibodies remained invariable. Our index case patient and her father could be diagnosed as having primary antiphospholipid antibody syndrome. Aspirin was not effective in preventing thrombosis. After the onset of oral anticoagulant therapy, no recurrences were seen. The use of a mixture of phospholipids as antigen could present some advantages in serological studies performed in antiphospholipid syndromes.

Summary:In order to assess the incidence of acute cerebrovascular events, 142 patients with adult polycystic kidney disease were retrospectively reviewed. Fourteen patients (9.8%) had 19 cerebral attacks. Six patients (4.2%) had intracranial haemorrhage attacks (three ruptured intracranial aneurysms and three cerebral haemorrhages). Ischaemic events occurred in nine patients (five cerebral infarctions and four transient ischaemic attacks). Patients with ischaemic attacks had a better outcome than patients with haemorrhagic events even when transient ischaemic attacks were excluded. Patients with ruptured intracranial aneurysms were younger. Cerebral complications are an important cause of morbidity and mortality in patients with adult polycystic kidney disease. They can prove disabling prior to or after dialysis and transplantation.

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