The Wilson films — Huntington's Chorea
Identifieur interne : 003410 ( Istex/Corpus ); précédent : 003409; suivant : 003411The Wilson films — Huntington's Chorea
Auteurs : Christine KleinSource :
- Movement Disorders [ 0885-3185 ] ; 2011-12.
English descriptors
Abstract
Wilson's Queen Square Case 9 with Huntington's chorea shows a 68‐year‐old man with mild to moderate generalized chorea, impaired fixation, and probable cognitive decline in keeping with a diagnosis of Huntington's disease (HD). An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents. A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult‐onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause‐directed, neuropreventive and neurorestaurative therapies. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23986
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ISTEX:1BE52A97BEF83702E7B46F100D6B2B87D472F09DLe document en format XML
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An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents. A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult‐onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause‐directed, neuropreventive and neurorestaurative therapies. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Christine Klein MD</name><affiliations><json:string>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Luebeck, Luebeck, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Huntington's disease, chorea, trinucleotide repeat expansion, genetic testing, historic Queen Square video</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Wilson's Queen Square Case 9 with Huntington's chorea shows a 68‐year‐old man with mild to moderate generalized chorea, impaired fixation, and probable cognitive decline in keeping with a diagnosis of Huntington's disease (HD). 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An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents. A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult‐onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause‐directed, neuropreventive and neurorestaurative therapies. © 2011 Movement Disorder Society</abstract><note type="content">*Relevant conflicts of interest/financial disclosures: Christine Klein is supported by a career development award from the Hermann and Lilly Schilling Foundation.</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>Huntington's disease, chorea, trinucleotide repeat expansion, genetic testing, historic Queen Square video</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. 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