Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurol Clin. 2013 Nov;31(4):987-1007. doi: 10.1016/j.ncl.2013.04.006. Epub 2013 Jul 30.

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Author information

1
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: vikramsh@med.umich.edu.

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.

KEYWORDS:

Ataxia; Autosomal dominant; Cerebellum; SCA; Spinocerebellar

PMID:
24176420
PMCID:
PMC3818725
DOI:
10.1016/j.ncl.2013.04.006
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center