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Title of Journal: J Neurol

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Abbravation: Journal of Neurology

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Steinkopff-Verlag

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DOI

10.1016/0009-2614(82)87084-x

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1432-1459

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Spinocerebellar ataxia type 17 in a patient from a

Authors: Dietrich Haubenberger Daniela Prayer Peter Bauer Walter Pirker Alexander Zimprich Eduard Auff
Publish Date: 2006/09/13
Volume: 253, Issue: 11, Pages: 1513-1515
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Abstract

Sirs Spinocerebellar ataxia 17 SCA17 is a rare type of autosomal dominant cerebellar ataxia ADCA characterized by ataxia combined with a variety of symptoms including chorea dysarthria dystonia dementia and epilepsy The onset age is between 6 and 48 years 9SCA17 is a polyglutaminedisorder with a pathological CAG/CAA repeat expansion in the gene coding for TATAbindingprotein TBP chromosome 6q27 with normal expansion from 29 to 42 6 TBP is a DNAbinding subunit of RNA polymeraseIItranscription factor D and is essential in the cellular transcription process 13

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