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Neuropsychological Deficits in Huntington’s Disease Gene Carriers and Correlates of Early "Conversion"

Received September 26, 2007; revised January 15, 2008; accepted January 31, 2008. The authors are affiliated with the Department of Psychiatry and Behavioral Sciences at The Johns Hopkins University School of Medicine in Baltimore; Drs. Brandt, Margolis, and Ross are also affiliated with the Department of Neurology and Dr. Ross is affiliated with the Department of Neurosciences at The Johns Hopkins University School of Medicine. Address correspondence to Jason Brandt, Ph.D., The Johns Hopkins Hospital, 600 N. Wolfe St., Meyer 218, Baltimore, MD 21287-7218; jbrandt{at}jhmi.edu (e-mail).

The authors examined whether the baseline cognitive functioning of 21 clinically normal huntingtin mutation carriers who developed manifest Huntington’s disease on follow-up differed from that of 49 mutation carriers who remain asymptomatic over the same period in a longitudinal study. One hundred thirty-four gene-negative offspring of Huntington’s disease patients were studied as well. Overall, there were no differences in cognitive test performance among the three groups. However, "converters" who developed signs of Huntington’s disease within 8.6 years demonstrated poorer performance on the Wisconsin Card Sorting Test at baseline. People with the Huntington’s disease mutation who are carefully examined neurologically and found to be asymptomatic have, at most, very minimal problem-solving impairment, and only if they are within a few years of clinical onset.

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