Article
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.
Annals of neurology - 1 Sept 2001
Margolis R L, O'Hearn E, Rosenblatt A, Willour V, Holmes S E, Franz M L, Callahan C, Hwang H S, Troncoso J C, Ross C A
Abstract excerpt
Huntington's disease (HD) is an autosomal dominant disorder characterized by abnormalities of movement, cognition, and emotion and selective atrophy of the striatum and cerebral cortex. While the etiology of HD is known to be a CAG trinucleotide repeat expansion, the pathways by which this mutation causes HD pathology remain unclear. We now report a large pedigree with an autosomal dominant disorder that is...
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