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Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion

1 Sept 2000

Abstract excerpt

Spinocerebellar ataxia 8 (SCA8) is caused by a CTG repeat expansion in an untranslated region of a recently cloned gene on 13q21. The pathogenic role of this trinucleotide repeat was evaluated by examining 154 Finnish ataxia patients and 448 controls. Expansions ranging from 100 to 675 repeats were present in 9 (6%) unrelated patients and in 13 (3%) controls. There was a threefold excess of shorter expansions...

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PMID: 10976642
DOI: 10.1002/1531-8249(200009)48:3<354::aid-ana10>3.0.co;2-a

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