Background: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome scan in a sample of 629 affected sibling pairs from 295 pedigrees, in which six genomic regions provided suggestive evidence for quantitative trait loci (QTL), modifying age at onset in HD.

The relationship between CAG repeat length and age at nursing home (NH) admission and age at percutaneous endoscopic gastrostomy (PEG) was examined in 47 residents of a specialized Huntington's disease long-term care facility who were observed for a median of 3 years (range, 1 to 11 years). CAG repeat length was inversely correlated with time to NH admission and PEG (both p < 0.001), independent of age at onset. CAG repeat length may influence disease progression to late-stage outcomes in addition to age at onset.

This activity has been planned and implemented in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. The University of Rochester School of Medicine and Dentistry designates this educational activity for a maximum of 4.75 credits in the AMA PRA Category 1 Credit™ system. Physicians should claim credit only commensurate with the extent of their participation in the activity. The Symposium consists of three keynote addresses and four platform presentations by the following individuals, with allotted time for questions and answers after each presentation.

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