Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
Journal Article
·
· American Journal of Human Genetics
OSTI ID:237439
- Hopital de la Salpetriere, Paris (France); and others
The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia (ADCA type I), a clinically and genetically heterogeneous group of neurodegenerative disorders, has been mapped to chromosome 14q32.1. ADCA type I patients from families segregating SCA3 share clinical features in common with those with Machado-Joseph disease (MJD), the gene of which maps to the same region. We show here that the disease gene segregating in each of three French ADCA type I kindreds and in a French family with neuropathological findings suggesting the ataxochoreic form of dentatorubropallidoluysian atrophy carries an expanded CAG repeat sequence located at the same locus as that for MJD. Analysis of the mutation in these families shows a strong negative correlation between size of the expanded CAG repeat and age at onset of clinical disease. Instability of the expanded triplet repeat was not found to be affected by sex of the parent transmitting the mutation. Evidence was found for somatic and gonadal mosaicism for alleles carrying expanded trinucleotide repeats. 36 refs., 5 figs., 2 tabs.
- OSTI ID:
- 237439
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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A third locus for autosomal dominant cerebellar ataxia Type I maps to chromosome 14q24. 3-qter: Evidence for the existence of a fourth locus
Journal Article
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Tue Oct 31 23:00:00 EST 1995
· American Journal of Human Genetics
·
OSTI ID:209920
Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia
Journal Article
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Fri Sep 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:110954
A third locus for autosomal dominant cerebellar ataxia Type I maps to chromosome 14q24. 3-qter: Evidence for the existence of a fourth locus
Journal Article
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Fri Dec 31 23:00:00 EST 1993
· American Journal of Human Genetics; (United States)
·
OSTI ID:5053470