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Clinical and MRI findings in spinocerebellar ataxia type 5

1999; Lippincott Williams & Wilkins; Volume: 53; Issue: 6 Linguagem: Inglês

10.1212/wnl.53.6.1355

1526-632X

Giovanni Stévanin, Alexandra Herman, Alexis Brice, Alexandra Dürr,

Ubiquitin and proteasome pathways

Article abstract Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to chromosome 11 in a single family descending from the grandparents of President Abraham Lincoln. We report a second, apparently unrelated, SCA5 family of French origin. The overall clinical picture was a slowly progressive cerebellar syndrome beginning mostly in the third decade (27 ± 10 years, range 14 to 40). MRI showed a marked global cerebellar atrophy similar to SCA6.