Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.
Brain. 1995-01-01; 118(6): 1573-1581
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1. Brain. 1995 Dec;118 ( Pt 6):1573-81.
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies).
Clinical and neuropathological analysis of 53 patients from three unrelated SCA2
Dürr A(1), Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson
GG, Chneiweiss H, Dellanave J, et al.
(1)INSERM U289, Hôpital de la Salpêtrière, Paris, France.
Autosomal dominant cerebellar ataxia type I was diagnosed in three unrelated
families from Martinique (French West Indies), and linkage to the locus for
spinocerebellar ataxia 2 (SCA2) was established. Neuropathological 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 slowed 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 disorders, oculomotor disturbances, sphincter disturbances
and cognitive 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 ophthalmoplegia and decreased reflexes, although phenotypic
heterogeneity remains the outstanding feature of this disorder.
PMID: 8595486 [Indexed for MEDLINE]