Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia

IMPORTANCE The core clinical and neuropathological feature of the autosomal dominant spinocerebellar ataxias (SCAs) is cerebellar degeneration. Mutations in the known genes explain only 50% to 60% of SCA cases. To date, no effective treatments exist, and the knowledge of drug-treatable molecular pat...

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Veröffentlicht in:	JAMA neurology 2014-07, Vol.71 (7), p.831-839
Hauptverfasser:	Bettencourt, Conceição, Ryten, Mina, Forabosco, Paola, Schorge, Stephanie, Hersheson, Joshua, Hardy, John, Houlden, Henry
Format:	Artikel
Sprache:	eng
Schlagworte:	Cerebellar Diseases - etiology Cerebellar Diseases - genetics Cerebellar Diseases - pathology Gene Expression Profiling - methods Gene Expression Regulation - genetics Genetic Loci - genetics Humans Mutation - genetics Spinocerebellar Ataxias - etiology Spinocerebellar Ataxias - genetics Tissue Banks
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