Clinical aspects of hereditary ataxias.
The hereditary ataxias are a group of complex genetic disorders the understanding of which is undergoing a revolution because of advances in molecular genetics. Within the last few years, at least seven different gene loci have been found to be responsible for these syndromes, and the search is on for additional loci that undoubtedly exist. This review summarizes the clinical features of the various hereditary ataxias with known gene loci, as well as others that are now defined on a clinical basis. It also deals with some of the imaging and neuropharmacologic advances that have been made in this group of disorders.
D000328:Adult; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008967:Molecular Biology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*