Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Abstract:

:The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap among causes, and a stratified and systematic approach is essential. Recent advances include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models that may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole-exome sequencing, to improve diagnosis.

journal_name

Neurol Clin

journal_title

Neurologic clinics

authors

Shakkottai VG,Fogel BL

doi

10.1016/j.ncl.2013.04.006

subject

Has Abstract

pub_date

2013-11-01 00:00:00

pages

987-1007

issue

4

eissn

0733-8619

issn

1557-9875

pii

S0733-8619(13)00045-5

journal_volume

31

pub_type

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