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 ( ). The disease has a varied age at onset and clinical presentation. It is distinct from other SCAs for its association with dementia,...

Full description

Saved in:

Bibliographic Details
Published in:	Frontiers in cellular neuroscience Vol. 12; p. 429
Main Authors:	Nethisinghe, Suran, Lim, Wei N, Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G, Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P, Bhatia, Kailash P, Wood, Nicholas W, Hardy, John, Polke, James M, Veneziano, Liana, Brusco, Alfredo, Davis, Mary B, Giunti, Paola
Format:	Journal Article
Language:	English
Published:	Switzerland Frontiers Research Foundation 23-11-2018 Frontiers Media S.A
Subjects:	Age Alleles Ataxia Ataxin CAG repeat expansions Chorea Dementia Dementia disorders Disease Epigenetics genetic counseling Genotype & phenotype Genotypes Heterozygotes High density lipoprotein Hospitals neurodegeneration Neurodegenerative diseases Neurology Neuromuscular diseases Neuroscience Neurosciences Neurosurgery Phenotypes Polyglutamine PolyQ Proteins SCA17 TATA-binding protein Trinucleotide repeat diseases Trinucleotide repeats United Kingdom > UK Italy genetic counseling neurodegeneration CAG repeat expansions ataxia SCA17 PolyQ
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!