Linked Life Data

21496579

Source:http://linkedlifedata.com/resource/pubmed/id/21496579

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2011-4-18
pubmed:abstractText
Benign hereditary chorea (BHC) is a hyperkinetic movement disorder that historically has been characterized as a nonprogressive, dominantly inherited, childhood-onset chorea with normal intelligence. However, in some cases, atypical features were described such that controversy arose regarding whether BHC was a single syndrome. In 2002, a candidate gene, thyroid transcription factor (TITF-1), was identified to cause at least some cases of BHC. Since that time, the classical phenotype has expanded further to include "brain-thyroid-lung syndrome," which, in addition to the neurological symptoms, also manifests variable degrees of thyroid and lung abnormalities. Pathophysiologic mechanisms by which symptoms can occur are postulated to include haploinsufficiency (loss of function) and/or dominant negative effect on wild-type protein. However, genotype-phenotype correlations are complex and there is no clear relationship between mutation size, location or type of mutation, and severity of phenotype. Gross and microscopic pathology has been unremarkable, though immunohistochemistry suggests that BHC may manifest as a result of a reduced complement of migratory interneurons to the striatum and cortex. This chapter reviews the historical literature and current understanding regarding this familial, developmental disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0072-9752
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Elsevier B.V. All rights reserved.
pubmed:issnType
Print
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
199-212
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Benign hereditary chorea.
pubmed:affiliation
Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital and Baycrest Geriatric Hospital, University of Toronto, Toronto, Canada. gkleinerfisman@yahoo.com
pubmed:publicationType
Journal Article, Review