منابع مشابه
Milestones in huntington disease.
There have been extraordinary advances in our knowledge of the underlying gene, the protein it encodes, various models of disease, and potential targets for effective therapies for Huntington disease. Huntington disease research has increased exponentially in the past 25 years, and we now understand many of the molecular mechanisms underlying the disease. Still, more work needs to be done befor...
متن کاملCase 24. Huntington Disease
● Huntington disease (HD) is a progressive neurological disorder that typically has its onset in the early 40s. ● HD is an autosomal dominant disorder. Genetic testing can determine whether a person has inherited HD prior to the onset of symptoms. ● Because of the lack of treatment for HD, the decision of an asymptomatic at-risk individual to undergo genetic testing is a personal one, based on ...
متن کاملHuntington Disease in Asia
OBJECTIVE The objective was to review the major differences of Huntington disease (HD) in Asian population from those in the Caucasian population. DATA SOURCES Data cited in this review were obtained from PubMed database and China National Knowledge Infrastructure (CNKI) from 1994 to 2014. All the papers were written in English or Chinese languages, with the terms of Asia/Asian, HD, genotype,...
متن کاملDiagnosis of Huntington disease.
BACKGROUND Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. METHODS We reviewed the literature concerning the molecular diagnosis of HD. RESULTS The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagno...
متن کاملRAN Translation in Huntington Disease
Huntington disease (HD) is caused by a CAG ⋅ CTG expansion in the huntingtin (HTT) gene. While most research has focused on the HTT polyGln-expansion protein, we demonstrate that four additional, novel, homopolymeric expansion proteins (polyAla, polySer, polyLeu, and polyCys) accumulate in HD human brains. These sense and antisense repeat-associated non-ATG (RAN) translation proteins accumulate...
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ژورنال
عنوان ژورنال: Journal of the Royal Society of Medicine
سال: 2006
ISSN: 0141-0768,0141-0768
DOI: 10.1258/jrsm.99.2.53-a