title: Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.
abstract: We performed linkage analysis between the gene responsible for spinal cerebellar ataxia 1 (SCA1) and the highly polymorphic chromosome 6 locus, D6S89, in 10 French families with autosomal dominant cerebellar ataxia (ADCA) type 1. These families were clinically indistinguishable except for one family with loss of hearing and vision. Very close linkage was observed in four families, with no evidence of recombination between SCA1 and D6S89. Linkage with D6S89 was excluded in the six others, thus demonstrating genetic heterogeneity for ADCA type 1. The D6S89 marker, which is very closely linked to the disease locus, can be used to identify SCA1 families and will lead to predictive testing.
authors.affiliation: Unité Inserm 289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Khati
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: A
authors.initials: A
authors.lastname: Durr
authors.forename: H
authors.initials: H
authors.lastname: Chneiweiss
authors.forename: S
authors.initials: S
authors.lastname: Belal
authors.forename: A
authors.initials: A
authors.lastname: Seck
authors.forename: H
authors.initials: H
authors.lastname: Cann
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
mesh_terms: D000328:Adult; D000483:Alleles; D002524:Cerebellar Ataxia / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005602:France; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011110:Polymorphism, Genetic