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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

Alexandra Dürr, Didier Smadja, Géraldine Cancel, Agnès Lezin, Giovanni Stevanin, Jacqueline Mikol, Rémy Bellance, Georges-Gabriel Buisson, Hervé Chneiweiss, Janine Dellanavc, Yves Agid, Alexis Brice, Jean-Claude Vernant
DOI: http://dx.doi.org/10.1093/brain/118.6.1573 1573-1581 First published online: 1 December 1995

Summary

Summary 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

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