Article
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
JAMA neurology - 1 Sept 2016
Mariani Louise-Laure, Tesson Christelle, Charles Perrine, Cazeneuve Cécile, Hahn Valérie, Youssov Katia, Freeman Leorah, Grabli David, Roze Emmanuel, Noël Sandrine, Peuvion Jean-Noel, Bachoud-Levi Anne-Catherine, Brice Alexis, Stevanin Giovanni, Durr Alexandra
Abstract excerpt
IMPORTANCE: Huntington disease (HD), a prototypic monogenic disease, is caused by an expanded CAG repeat in the HTT gene exceeding 35 units. However, not all patients with an HD phenotype carry the pathological expansion in HTT, and the positive diagnosis rate is poor. OBJECTIVES: To examine patients with HD phenotypes to determine the frequency of HD phenocopies with typical features of HD but without...
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