Author： Johansson J.
Publisher： Oxford University Press
ISSN： 1460-2083
Source： Human Molecular Genetics, Vol.7, Iss.2, 1998-02, pp. : 171-176
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Abstract
Spinocerebellar ataxia 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. The gene responsible for SCA7, located on chromosome 3p, recently was cloned and shown to contain a CAG repeat in the coding region of the gene, that is expanded in SCA7 patients of French origin. We examined the SCA7 repeat region in four Swedish SCA7 families as well as in 57 healthy controls. All Swedish SCA7 patients exhibited expanded CAG repeats with a strong negative correlation between repeat size and age of onset. The repeat length in SCA7 patients ranged from 40 to >200 repeats. The largest expansion was observed in a juvenile case with an age of onset of 3 months, and represents the longest polyglutamine stretch ever reported. In patients with 59 repeats or more, visual impairment was the most common initial symptom observed, while ataxia predominates in patients with <59 repeats.="" two="" of="" the="" swedish="" sca7="" families="" analysed="" in="" this="" study="" were="" shown="" to="" be="" related="" genealogically.="" the="" other="" two="" sca7="" families="" could="" not="" be="" traced="" back="" to="" a="" common="" ancestor.="" all="" four="" families="" shared="" the="" same="" allele="" on="" the="" disease="" chromosome="" at="" a="" locus="" closely="" linked="" to="" sca7,="" suggesting="" the="" possibility="" of="" a="" founder="" effect="" in="" the="" swedish="" population.="">
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