Human Molecular Genetics, Vol 7, 171-176, Copyright © 1998 by Oxford University Press
J Johansson, L Forsgren, O Sandgren, A Brice, G Holmgren and M Holmberg
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.
ARTICLES
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation
Department of Clinical Genetics, University Hospital of Umea, S-90185 Umea, Sweden.
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