title: Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.
abstract: The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap among causes, and a stratified and systematic approach is essential. Recent advances include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models that may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole-exome sequencing, to improve diagnosis.
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: vikramsh@med.umich.edu.
authors.forename: Vikram G
authors.initials: VG
authors.lastname: Shakkottai
authors.forename: Brent L
authors.initials: BL
authors.lastname: Fogel
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005820:Genetic Testing; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D051379:Mice; D010455:Peptides; D051381:Rats; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism
chemical_list: D010455:Peptides; C097188:polyglutamine
keywords: Ataxia; Autosomal dominant; Cerebellum; SCA; Spinocerebellar