Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report

<p>Abstract</p> <p>Background</p> <p>The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cogniti...

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Bibliographic Details
Main Authors: Nielsen Troels, Mardosiene Skirmante, Løkkegaard Annemette, Stokholm Jette, Ehrenfels Susanne, Bech Sara, Friberg Lars, Nielsen Jens, Nielsen Jørgen E
Format: Article
Language:English
Published: BMC 2012-08-01
Series:BMC Neurology
Subjects:
Spinocerebellar ataxia type 17
Dementia
Short CAG repeat expansion
Online Access:http://www.biomedcentral.com/1471-2377/12/73

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