SCA8

M. D. Koob

doi:10.1016/B978-0-12-374105-9.00210-0

SCA8

M. D. Koob

Laboratory Medicine and Pathology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive, dominantly inherited neurodegenerative disease. SCA8 patients have large CTG repeat expansions in the untranslated antisense RNA of the Kelch-like 1 gene (KLHL1AS), but the precise relationship between this expansion and disease is complex and is still poorly understood.

Original language	English (US)
Title of host publication	Encyclopedia of Movement Disorders, Three-Volume Set
Publisher	Elsevier
Pages	V3-78-V3-80
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00210-0
State	Published - Jan 1 2010

Bibliographical note

Publisher Copyright:
© 2010 Elsevier Ltd. All rights reserved.

Keywords

Antisense RNA
Ataxia
CTG
KLHL1
KLHL1AS
Spinocerebellar ataxia
Trinucleotide expansion mutation

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AB - Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive, dominantly inherited neurodegenerative disease. SCA8 patients have large CTG repeat expansions in the untranslated antisense RNA of the Kelch-like 1 gene (KLHL1AS), but the precise relationship between this expansion and disease is complex and is still poorly understood.

KW - Antisense RNA

KW - Ataxia

KW - CTG

KW - KLHL1

KW - KLHL1AS

KW - Spinocerebellar ataxia

KW - Trinucleotide expansion mutation

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ER -

SCA8

Abstract

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Keywords

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