Asunto(s)
Aminoácido Oxidorreductasas/genética , Proteínas de Unión al ADN/genética , Genes Dominantes , Proteínas del Tejido Nervioso/genética , Degeneraciones Espinocerebelosas/genética , Factores de Transcripción/genética , Alelos , Secuencia de Bases , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico , Cromosomas Humanos Par 12 , Cuba , Proteínas de Unión al ADN/fisiología , Frecuencia de los Genes , Genes , Humanos , Escala de Lod , Repeticiones de Minisatélite , Datos de Secuencia Molecular , Óxido Nítrico Sintasa , Degeneraciones Espinocerebelosas/clasificación , Factores de Transcripción/fisiologíaRESUMEN
The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23-24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).