The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.
Nat Genet. 1995-05-01; 10(1): 84-88
DOI: 10.1038/ng0595-84
Read on PubMed
1. Nat Genet. 1995 May;10(1):84-8.
The gene for autosomal dominant cerebellar ataxia with pigmentary macular
dystrophy maps to chromosome 3p12-p21.1.
Benomar A(1), Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin
JJ, Dürr A, Zaim A, et al.
Author information:
(1)INSERM U 289, Hôpital de la Salpêtière, Paris, France.
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type
II) is a rare neurodegenerative disorder with marked anticipation. We have mapped
the ADCA type II locus to chromosome 3 by linkage analysis in a genome-wide
search and found no evidence for genetic heterogeneity among four families of
different geographic origins. Haplotype reconstruction initially restricted the
locus to the 33 cM interval flanked by D3S1300 and D3S1276 located at 3p12-p21.1.
Combined multipoint analysis, using the Zmax-1 method, further reduced the
candidate interval to an 8 cM region around D3S1285. Our results show that ADCA
type II is a genetically homogenous disorder, independent of the heterogeneous
group of type I cerebellar ataxias.
DOI: 10.1038/ng0595-84
PMID: 7647798 [Indexed for MEDLINE]