Brain, Vol. 118, No. 6, 1573-1581, 1995
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Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)
Clinical and neuropathological analysis of 53 patients from three unrealted SCA2 families
1INSERM U289, Hópitual de la Satpêtrière Paris, France 2Service Central d'Anatomie et de Cytologie Pathologiques, Hópital Lariboisière Paris, France 3INSERM U114, Collè de France Paris, France 4Service de Neurologie, Hôpital Pierre Zobda-Quitman Fort-de-France 5Laboratoire de Biologie Moléculaire, CTS-HÔpital Pierre Zobda-Quitman Fort-de-France, Martinique, French west Indies
Correspondence to:
Correspondence to: Alexis Brice, INSERM U289, Hôpital de la Salpêtrière, 47 bd de I'Hôpital, 75651 Paris Cedex 13, France
Autosomal dominant cerebettar ataxia type I was diagnosed in three unrelated families from Martinique (French West Indies), and linkage to the locas for spinocerebellar ataxia 2(SCA2) was established. Neuropathotogical findings in two patients were those of olivopontocerebellar atrophy without oligodendroglial cytoplasmic inclusions. Cerebellar ataxia was associated with hyporeflexia in 68% of 31 examined patients, with stawed and/or limited eye movements in 65% and with dementia in 29%. No patients had optic atrophy, pigmentary retinal degeneration, spasticity or parkinsonism. Mean age at onset was 33±16 years, and onset before the age of 20 years was correlated with a more rapid and severe course of the disease. Movement dixonders, oculomotor disturbunces, sphincter disturbances and congnitive impairment were significantly more frequent in early than in late onset patients. This explains why the phenotype was strikingly different in one family, in which mean age at onset was much earlier. Comparison with previously described SCA2 families indicated similarities, such as reduced saccade velocity, supranuclear opthalmoplegia and decreased reflexes, although phenotypic heterogeneity remains the outstanding feature of this disorder
autosomal dominant cerebellar ataxia type 1; spinocerebellar ataxia 2; olivopontocerebellar atrophy; phenotypic heterogeneity
Received June 2, 1995. Accepted July 22, 1995.
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