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Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms.

Neurology - 1 Jan 1995

Genis D, Matilla T, Volpini V, Rosell J, Dávalos A, Ferrer I, Molins A, Estivill X

Abstract excerpt

We report the clinical, neuropathologic, and genetic studies of a large kindred (family M-ADCA1) with autosomal dominant spinocerebellar ataxia type 1 (SCA1), ascertained in 41 members, with clinical data available in twenty-two. The mean age of onset was 36.3 +/- 6.2 years (ages, 26 to 52), the mean duration of the disease was 15.8 +/- 6.5 years (range, 10 to 28 years), and the mean age at death was 54.1 +/- 9.5...

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PMID: 7824128
DOI: 10.1212/wnl.45.1.24

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