Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
Ann Neurol.. 1994-04-01; 35(4): 439-444
DOI: 10.1002/ana.410350411
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1. Ann Neurol. 1994 Apr;35(4):439-44.
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is
genetically different from ADCA type I.
Benomar A(1), Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T,
Agid Y, Brice A.
Author information:
(1)INSERM U289, Hôpital de la Salpêtrière, Paris, France.
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.
DOI: 10.1002/ana.410350411
PMID: 8154871 [Indexed for MEDLINE]