Article
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
Nature genetics - 1 Aug 2001
Curtis A R, Fey C, Morris C M, Bindoff L A, Ince P G, Chinnery P F, Coulthard A, Jackson M J, Jackson A P, McHale D P, Hay D, Barker W A, Markham A F, Bates D, Curtis A, Burn J
Abstract excerpt
We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or parkinsonism. We mapped the disorder, by linkage analysis, to 19q13.3, which contains the gene for ferritin light polypeptide (FTL). We found an adenine insertion at position 460-461 that is predicted to alter...
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