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
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DOI: 10.1002/mds.23986
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