This article reports a new MERRF family. The mother, regarded as suffering from Ramsay-Hunt Syndrome, and her three daughters, had the same clinical pattern: myoclonic epilepsy and ataxia. Two daughters were studied on morphological, biochemical and molecular genetic levels. Muscle biopsies showed ragged-red fibres and mitochondrial vasculopathy. Arterioles were strongly SDH-reactive and COX-negative. By electron microscopy, abnormal mitochondria were observed in skeletal muscle fibres, in smooth muscle fibres of intramuscular vessels and in sweat gland epithelium. The study of the respiratory chain showed complex IV and I + IV deficiency, respectively. Mitochondrial tRNA (lys) mutation at position 8344 was pointed out as previously reported in the MERRF syndrome.

Adolescent↗

PubMedDate not supplied

Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.

The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with reports of families with triplication of the same gene. These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene.

Adult↗

PubMedDate not supplied

Parkinsonism and exposure to neuroleptic drugs in elderly people living in institutions.

Three-hundred fifty-two randomly selected residents, aged over 65 years, of 42 representative long-term care institutions in a defined geographic area of south-western France, were assessed for demographic characteristics, drug intake, and motor and cognitive status. Neuroleptic drug intake is described and demographic variables and motor and cognitive status are analyzed according to exposure to neuroleptics and presence of parkinsonism. Exposure to neuroleptics was considered as a "risk factor" for parkinsonism, and the risk (proportion) of parkinsonism attributable to neuroleptics calculated. Twenty-one percent of subjects were exposed to neuroleptics, of whom 27% took more than one. Subjects taking neuroleptics were significantly younger and more cognitively impaired. About 30% of subjects taking neuroleptics had parkinsonism (6.25% of the sample). Postural and action tremors were more frequent than resting tremor, and asymmetry of parkinsonian signs was found in 25%. The mean dosage taken by exposed subjects with parkinsonism was found to be twice that of those without. The proportion of cases of parkinsonism attributable to neuroleptics in institutions was 19%. Our results clearly show that neuroleptic drug use in institutionalized elderly persons is associated with a high risk for parkinsonism.

Academies and Institutes↗

PubMedDate not supplied

Epidemiology of multiple system atrophy: a prevalence and pilot risk factor study in Aquitaine, France.

We investigated the prevalence of multiple system atrophy (MSA) in Gironde, France, through a network of 120 public and private specialists and assessed the relationship between some environmental factors and MSA in a case-control study involving 50 MSA patients, 50 Parkinson's disease (PD) patients and 50 healthy controls. The occupational exposure to pesticides was evaluated through a job-exposure matrix. On prevalence day (November 1, 1998), the crude prevalence of MSA in Gironde was 1.94/100,000 inhabitants. We found no significant relationship between occupational exposure to pesticides and MSA. PD patients were significantly less frequently ever-smokers than controls and the same tendency was observed for MSA patients. We also described the clinical features that heralded the disease among this nonselected population.

Adolescent↗