SCA2 is not a major locus for ADCA type I in French families.
Am. J. Med. Genet.. 1995-10-09; 60(5): 382-385
DOI: 10.1002/ajmg.1320600507
Lire sur PubMed
1. Am J Med Genet. 1995 Oct 9;60(5):382-5.
SCA2 is not a major locus for ADCA type I in French families.
Cancel G(1), Stevanin G, Dürr A, Chneiweiss H, Penet C, Pothin Y, Agid Y, Brice
A.
Author information:
(1)INSERM U289, Hôpital de la Salpêtrière, Paris, France.
Autosomal dominant cerebellar ataxias (ADCA) of type I, a group of clinically
heterogeneous neurodegenerative disorders, are known to be genetically
heterogeneous since a second locus for ADCA type I (SCA2) has been identified on
the long arm of chromosome 12. Linkage analysis was performed in 7 French ADCA
type I families in order to estimate its frequency. We analysed 121 individuals,
39 of whom were affected. In 6 families, the SCA2 candidate interval, spanning
12.8 cM, was excluded by bi- and multipoint analysis. In one family (SAL-315),
however, the maximal positive lod score reached 2.03 at the D12S79 locus. A
posterior probability of 94% in favor of linkage to SCA2 was calculated by
homogeneity analysis. The clinical profile of this family was similar to that of
previously described SCA1 and non-SCA1 families, except that dementia was
observed in 2 out of 6 patients. This may be a clinical idiosyncrasy in this
family and was insufficient for a genotype-phenotype correlation.
DOI: 10.1002/ajmg.1320600507
PMID: 8546150 [Indexed for MEDLINE]