title: Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus.
abstract: The autosomal dominant cerebellar ataxias have proved particularly difficult to classify due to the lack of phenotypic concordance both within and between families. Genetic heterogeneity has been established, and disease loci for spinal cerebellar ataxia have been assigned to chromosomes 6 (SCA1), 12 (SCA2) and 14 (Machado Joseph disease (MJD)). Genetic analysis performed on a large Thai kindred with autosomal dominant cerebellar ataxia, in which frontal lobe signs and dementia are commonly observed in affected family members, exclude linkage to the SCA1, SCA2 and MJD loci. This demonstrates that mutation in at least one further locus can cause spinal cerebellar ataxia, indicating the need for caution in the use of markers for predictive testing or prenatal diagnosis these disorders.
authors.affiliation: Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College, London, UK.
authors.forename: R
authors.initials: R
authors.lastname: Twells
authors.forename: P T
authors.initials: PT
authors.lastname: Yenchitsomanus
authors.forename: C
authors.initials: C
authors.lastname: Sirinavin
authors.forename: R
authors.initials: R
authors.lastname: Allotey
authors.forename: N
authors.initials: N
authors.lastname: Poungvarin
authors.forename: A
authors.initials: A
authors.lastname: Viriyavejakul
authors.forename: C
authors.initials: C
authors.lastname: Cemal
authors.forename: J
authors.initials: J
authors.lastname: Weber
authors.forename: M
authors.initials: M
authors.lastname: Farrall
authors.forename: P
authors.initials: P
authors.lastname: Rodprasert
mesh_terms: D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002883:Chromosomes, Human, Pair 14; D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000097:blood / Q000235:genetics; D004276:DNA, Satellite / Q000235:genetics; D003704:Dementia / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000235:genetics*
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D004247:DNA