Abstract
The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie, Hopital de la Salpetriere, Paris, and Service de Neurologie, Hopital de Haut Leveque, Pessac, France; and Service de Neurologie, Hopital des Specialites, Rabat, Morocco.
Highlights
Simple non-progressive ataxias comprise less than 10% of cases of cerebral palsy
MACHADO-JOSEPH DISEASE The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie, Hopital de la Salpetriere, Paris, and Service de Neurologie, Hopital de Haut Leveque, Pessac, France; and Service de Neurologie, Hopital des Specialites, Rabat, Morocco
The length of the CAG repeat influenced the age at onset and the frequency of clinical signs associated with cerebellar ataxia
Summary
Simple non-progressive ataxias comprise less than 10% of cases of cerebral palsy. Of 50% with known pathologies, the majority were prenatal in origin, many with a genetic background. No abnormality was revealed by imaging studies in 61%. MACHADO-JOSEPH DISEASE The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie, Hopital de la Salpetriere, Paris, and Service de Neurologie, Hopital de Haut Leveque, Pessac, France; and Service de Neurologie, Hopital des Specialites, Rabat, Morocco.
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