Linked Life Data

18341606

Source:http://linkedlifedata.com/resource/pubmed/id/18341606

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-4-10
pubmed:abstractText
Huntington disease-like 2 (HDL2) is a rare autosomal dominant disorder of the nervous system, apparently indistinguishable from Huntington disease (HD). HDL2 is caused by the expansion above 40 CTG/CAG repeats, in a variably spliced exon of the junctophilin-3 gene, on chromosome 16q24.3. All patients described so far have been of African ancestry. A clinical evaluation, including the Unified Huntington's Disease Rating Scale, and brain Magnetic resonance imaging were achieved in a 48-year-old Brazilian man of apparent European extraction, and presenting a picture very suggestive of HD. Gene mutation analysis (HD, HDL1, HDL2, dentatorubralpallidoluysian atrophy and spinocerebellar ataxia 17) was performed. After exclusion of the HD mutation and other HDL disorders, we identified an expansion of 47 CTG/CAG at the HDL2 locus. To clarify the origin of the mutation and estimate the patient's ancestry, we performed haplotype studies and used the insertion/deletion polymorphisms method. Despite the fact that this patient had an estimated likelihood of 97.4% of being of European ancestry, the haplotype containing the expanded allele has been found only in Africans. Thus, this is the first HDL2 case reported in a patient with an apparent European ancestry, although bearing an African HDL2 haplotype. This work stresses the importance of performing the diagnosis of HDL2 in HD-like patients of various ethnicities, and particularly in highly mixed populations.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1399-0004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
480-5
pubmed:dateRevised
2009-4-16
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Huntington disease-like 2: the first patient with apparent European ancestry.
pubmed:affiliation
Instituto de Biologia Molecular e Celular, Porto, Portugal. csantos@ibmc.up.pt
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't