Linked Life Data

20640395

Source:http://linkedlifedata.com/resource/pubmed/id/20640395

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2011-4-12
pubmed:abstractText
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological diseases affecting both the central and the peripheral nervous systems. They are characterized by autosomal recessive inheritance, progressive ataxia and degeneration of the cerebellum and spinal cord. Onset is generally before the third decade of life. The most frequent of these rare disorders in the Caucasian population is Friedreich's ataxia followed by ataxias with oculomotor apraxia. ARCAs are caused by mutations at specific loci but not every affected gene is known to date. Clinical diagnosis can be confirmed by ancillary tests (biochemical, neuroimaging and electrophysiological investigations) and mutation analyses if the causative gene has been identified. Correct clinical and genetic diagnosis is necessary for prognosis, genetic counseling and pharmacological treatment. For the majority of ARCAs a curative treatment is not available.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1433-0407
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
447-8, 450-8
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
[Clinical details and genetics of recessive ataxias].
pubmed:affiliation
Institut für Humangenetik, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck. Christine.Zuehlke@uk-sh.de
pubmed:publicationType
Journal Article, English Abstract, Review