title: A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.
abstract: The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage analysis in a non-SCA1/non-SCA2 family and have confirmed its existence in a second such family. We suggest designating this new locus "SCA3". Combined analysis of the two families restricted the SCA3 locus to a 15-cM interval between markers D14S67 and D14S81. The gene for Machado-Joseph disease (MJD), a clinically different form of ADCA type I, has been recently assigned to chromosome 14q24.3-q32. Although the SCA3 locus is within the MJD region, linkage analyses cannot yet demonstrate whether they result from mutations of the same gene. Linkage to all three loci (SCA1, SCA2, and SCA3) was excluded in another family, which indicates the existence of a fourth ADCA type I locus.
authors.affiliation: INSERM Unité 289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: N
authors.initials: N
authors.lastname: Ravisé
authors.forename: H
authors.initials: H
authors.lastname: Chneiweiss
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: G
authors.initials: G
authors.lastname: Cancel
authors.forename: A
authors.initials: A
authors.lastname: Vignal
authors.forename: A L
authors.initials: AL
authors.lastname: Boch
authors.forename: M
authors.initials: M
authors.lastname: Ruberg
authors.forename: C
authors.initials: C
authors.lastname: Penet
mesh_terms: D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D005819:Genetic Markers