Article
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.
Human genetics - 1 May 1996
Lezin A, Cancel G, Stevanin G, Smadja D, Vernant J C, Dürr A, Martial J, Buisson G G, Bellance R, Chneiweiss H, Agid Y, Brice A
Abstract excerpt
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders that are clinically and genetically heterogeneous. We report here a genetic linkage study, with five chromosome 12q markers, of three Martinican families with ADCA type 1, for which the spinocerebellar ataxia 1 (SCA1) locus was excluded. Linkage to the SCA2 locus was demonstrated with a maximal lead score of 6.64 at theta =...
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