Linked Life Data

15835282

Source:http://linkedlifedata.com/resource/pubmed/id/15835282

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2005-4-19
pubmed:abstractText
Huntington's Disease-like 2 (HDL2), like Huntington's disease (HD), is an adult onset, progressive, neurodegenerative autosomal dominant disorder clinically characterized by abnormal movements, dementia, and psychiatric syndromes. Like HD, the neuropathology of HDL2 features prominent cortical and striatal atrophy and intranuclear inclusions. HDL2 is generally rare, accounting for only a few percent of HD-like cases in which the HD mutation has already been excluded. However, the rate is considerably higher among individuals of African ancestry, and is almost as common as HD in Black South Africans. The disorder is caused by a CTG/CAG expansion mutation on chromosome 16q24.3, with normal and expanded repeat ranges similar to HD, and a correlation between repeat length and onset age very similar to HD. Surprisingly, the available evidence suggests that HDL2 is not a polyglutamine disease. Rather, the repeat expansion is located within Junctophilin-3 in the CTG orientation. The phenotypic similarities between HD and HDL2 suggest that understanding the pathobiology of HDL2 may shed new light on the pathogenesis of HD and other disorders of striatal neurodegeneration.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1028-768X
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-8
pubmed:dateRevised
2008-5-28
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Huntington's disease like-2: review and update.
pubmed:affiliation
Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, USA. rmargoli@jhmi.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't