title: Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
abstract: Autosomal-dominant cerebellar ataxia (ADCA) type II is a neurodegenerative disorder presenting with cerebellar ataxia and retinal degeneration. We analyzed the clinical features of 21 patients with ADCA type II from 3 Moroccan and 2 French families. Mean age at onset was 17 years earlier in offspring than in their parents, compatible with anticipation. There was a suggestion of imprinting, with predominantly paternal transmission of early onset and severe forms of the affection. Candidate genes were tested in the family with the largest pedigree. The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa. ADCA type II does not therefore result from an allelic mutation of the tested genes for ADCA type I or autosomal dominant retinitis pigmentosa.
authors.affiliation: INSERM U289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Benomar
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: H
authors.initials: H
authors.lastname: Ouhabi
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: M
authors.initials: M
authors.lastname: Yahyaoui
authors.forename: T
authors.initials: T
authors.lastname: Chkili
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000145:classification / Q000150:complications / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications*; D012174:Retinitis Pigmentosa / Q000235:genetics