Linked Life Data

8154871

Source:http://linkedlifedata.com/resource/pubmed/id/8154871

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1994-5-10
pubmed:abstractText
Autosomal-dominant cerebellar ataxia (ADCA) type II is a neurodegenerative disorder presenting with cerebellar ataxia and retinal degeneration. We analyzed the clinical features of 21 patients with ADCA type II from 3 Moroccan and 2 French families. Mean age at onset was 17 years earlier in offspring than in their parents, compatible with anticipation. There was a suggestion of imprinting, with predominantly paternal transmission of early onset and severe forms of the affection. Candidate genes were tested in the family with the largest pedigree. The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa. ADCA type II does not therefore result from an allelic mutation of the tested genes for ADCA type I or autosomal dominant retinitis pigmentosa.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0364-5134
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
439-44
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
pubmed:affiliation
INSERM U289, Hôpital de la Salpêtrière, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't