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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct from other SCAs for its association with dementia...

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Principais autores: Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2018-11-01
Serier:Frontiers in Cellular Neuroscience
Fag:
PolyQ
ataxia
CAG repeat expansions
SCA17
neurodegeneration
genetic counseling
Online adgang:https://www.frontiersin.org/article/10.3389/fncel.2018.00429/full
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