Article
Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2021
McDonnell Erin I, Wang Yuanjia, Goldman Jill, Marder Karen
Abstract excerpt
BACKGROUND: Age of manifest Huntington's disease (HD) onset correlates with number of CAG repeats in the huntingtin gene. Little is known about onset with 36 to 39 repeats, the "reduced penetrance" (RP) range. OBJECTIVES: We provide allele-specific estimates of HD penetrance (diagnostic confidence level of 4) for RP allele carriers. METHODS: We analyzed 431 pre-manifest RP allele carriers from Enroll-HD, the...
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