Article
Clinical severity of Huntington's disease does not always correlate with neuropathologic stage.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2012
Pillai Jagan A, Hansen Lawrence A, Masliah Eliezer, Goldstein Jody L, Edland Steven D, Corey-Bloom Jody
Abstract excerpt
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a triplet-repeat, CAG expansion mutation. Although CAG repeat length is thought to correlate with pathologic burden and disease severity, considerable variability in clinical phenotype remains. This study examined whether neuropathologic burden at autopsy corresponded with severity of clinical phenotype in HD. The brains of 24 patients...
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