Linked Life Data

21450511

Source:http://linkedlifedata.com/resource/pubmed/id/21450511

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2011-6-21
pubmed:abstractText
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. Following the description of the first patients in 1978, the gene responsible has been mapped and identified. It was also shown that the disease occurred worldwide with more than 70 mutations and diverse phenotypes. Because of the random partition of these mutations in the SACS gene particularly on the largest exon nine, and due to the significant clinical variability between patients described in different countries, it has been difficult to establish a genotype-phenotype correlation for the disease. This paper reviews the broad clinical features and the various molecular aspects of ARSACS, reported over the last 30 years highlighting the difficulty of finding correlations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1873-5126
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
418-22
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
pubmed:affiliation
Bioinformatics Facility, University of South Dakota, Vermillion, SD 57069, USA.
pubmed:publicationType
Journal Article, Review