Article
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
American journal of human genetics - 1 Jul 2004
Ikeda Yoshio, Dalton Joline C, Moseley Melinda L, Gardner Kathy L, Bird Thomas D, Ashizawa Tetsuo, Seltzer William K, Pandolfo Massimo, Milunsky Aubrey, Potter Nicholas T, Shoji Mikio, Vincent John B, Day John W, Ranum Laura P W
Abstract excerpt
We reported elsewhere that an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8). SCA8 shows a complex inheritance pattern with extremes of incomplete penetrance, in which often only one or two affected individuals are found in a given family. SCA8 expansions have also been found in control chromosomes, indicating that separate genetic or...
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