Article
Huntington's Disease-like 2 (HDL2) in North America and Japan.
Annals of neurology - 1 Nov 2004
Margolis Russell L, Holmes Susan E, Rosenblatt Adam, Gourley Lisa, O'Hearn Elizabeth, Ross Christopher A, Seltzer William K, Walker Ruth H, Ashizawa Tetsuo, Rasmussen Astrid, Hayden Michael, Almqvist Elisabeth W, Harris Juliette, Fahn Stanley, MacDonald Marcy E, Mysore Jayalakshmi, Shimohata Takayoshi, Tsuji Shoji, Potter Nicholas, Nakaso Kazuhiro, Adachi Yoshiki, Nakashima Kenji, Bird Thomas, Krause Amanda, Greenstein Penny
Abstract excerpt
Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q24.3, in a variably spliced exon of junctophilin-3. The frequency of HDL2 was determined in nine independent series of patients referred for HD testing or selected...
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