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The Wilson films — Huntington's Chorea

✍ Scribed by Christine Klein

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
63 KB
Volume
26
Category
Article
ISSN
0885-3185

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✦ Synopsis

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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