Linked Life Data

7902323

Source:http://linkedlifedata.com/resource/pubmed/id/7902323

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1993-12-29
pubmed:abstractText
Machado-Joseph disease (MJD) and Holguin ataxia (SCA2) are autosomal dominant multisystem degenerations with spinocerebellar involvement that are predominant among people of Portuguese-Azorean and of Cuban descent, respectively. Their clinical distinction may at times be difficult to make in individual patients, due to significant phenotypic overlapping (similar overall age-of-onset and duration of cerebellar ataxia, eye movement, and, often, other common problems. The recent mapping of SCA2 to chromosome 12q provided another candidate region for linkage studies of MJD. Original data on 10 families with Holguin ataxia show that the locus for phenylalanine hydroxylase (PAH) on chromosome 12q is linked to SCA2 at 4 cM and is thus far its closest marker. The exclusion of linkage 15 cM on each side of PAH in 16 families with MJD shows that these two forms of dominant ataxia are genetically distinct and at different chromosomal locations (nonallelic).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:geneSymbol
MJD, PAH, SCA2
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
556-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).
pubmed:affiliation
UnIGENe, IBMC, Univ. Porto, Portugal.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't