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Mov Disord. 2011 Dec;26(14):2464-6. doi: 10.1002/mds.23986.

The Wilson films--Huntington's chorea.

Author information

1
Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Luebeck, Luebeck, Germany. christine.klein@neuro.uni-luebeck.de

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.

PMID:
22170268
DOI:
10.1002/mds.23986
[Indexed for MEDLINE]

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