From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17

Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and inv...

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Hlavní autoři: Koutsis, Georgios, Panas, Marios, Paraskevas, George P., Bougea, Anastasia M., Kladi, Athina, Karadima, Georgia, Kapaki, Elisabeth
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4202309/
https://ncbi.nlm.nih.gov/pubmed/25349749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/643289
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