Neuropsychological deficits in Huntington's disease gene carriers and correlates of early "conversion"

J Neuropsychiatry Clin Neurosci. Fall 2008;20(4):466-72. doi: 10.1176/jnp.2008.20.4.466.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA / genetics
  • Disease Progression
  • Female
  • Heterozygote*
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Huntington Disease / psychology*
  • Male
  • Nerve Tissue Proteins / genetics
  • Neuropsychological Tests
  • Nuclear Proteins / genetics
  • Problem Solving / physiology
  • Psychomotor Performance / physiology

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • DNA