Cognitive scores in carriers of Huntington's disease gene compared to noncarriers

Tatiana Foroud, Eric Siemers, Dawn Kleindorfer, Danield J. Bill, M. E. Hodes, James A. Norton, P. Michael Conneally, Joe C. Christian

Research output: Contribution to journalArticle

110 Citations (Scopus)

Abstract

Huntington's disease (HD) is a progressive neurodegenerative disorder recently shown to be due to an excess number of CAG trinucleotide repeats in the 5' translated region of chromosome 4. One of the cardinal features of HD is cognitive decline. While mental deterioration is obvious later in the disease course, the time of its onset is difficult to determine precisely. A sample of at-risk individuals without signs or symptoms of HD by self-report was studied. The Wechsler Adult Intelligence Test-Revised and a neurological rating scale were administered. The genotypes of 394 individuals were then determined by polymerase chain reaction testing. On all portions of the WAIS- R test, the mean score of the HD gene carriers was lower than that of the noncarriers. Scores on two of the performance subtests, the digit symbol and the picture arrangement, were significantly different in the two groups, even after the scores from all gene carriers who were diagnosed as affected based on their neurological motor examination were removed. The scores for the gene carriers on the various subtests were negatively correlated with the number of CAG repeats in the expanded HD allele. Such a relationship was not seen with the normal alleles of the noncarriers. Taken together, our results suggest that a deficit in cognitive function is an early finding of HD and that in this patient population, the degree of cognitive deficit is proportional to the number of CAG repeats in the HD allele.

Original languageEnglish
Pages (from-to)657-664
Number of pages8
JournalAnnals of Neurology
Volume37
Issue number5
DOIs
StatePublished - May 1995

Fingerprint

Huntington Disease
Genes
Alleles
Trinucleotide Repeats
Chromosomes, Human, Pair 4
Intelligence Tests
Neurologic Examination
Neurodegenerative Diseases
Self Report
Cognition
Signs and Symptoms
Genotype
Polymerase Chain Reaction
Population

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Foroud, T., Siemers, E., Kleindorfer, D., Bill, D. J., Hodes, M. E., Norton, J. A., ... Christian, J. C. (1995). Cognitive scores in carriers of Huntington's disease gene compared to noncarriers. Annals of Neurology, 37(5), 657-664. https://doi.org/10.1002/ana.410370516

Cognitive scores in carriers of Huntington's disease gene compared to noncarriers. / Foroud, Tatiana; Siemers, Eric; Kleindorfer, Dawn; Bill, Danield J.; Hodes, M. E.; Norton, James A.; Conneally, P. Michael; Christian, Joe C.

In: Annals of Neurology, Vol. 37, No. 5, 05.1995, p. 657-664.

Research output: Contribution to journalArticle

Foroud, T, Siemers, E, Kleindorfer, D, Bill, DJ, Hodes, ME, Norton, JA, Conneally, PM & Christian, JC 1995, 'Cognitive scores in carriers of Huntington's disease gene compared to noncarriers', Annals of Neurology, vol. 37, no. 5, pp. 657-664. https://doi.org/10.1002/ana.410370516
Foroud, Tatiana ; Siemers, Eric ; Kleindorfer, Dawn ; Bill, Danield J. ; Hodes, M. E. ; Norton, James A. ; Conneally, P. Michael ; Christian, Joe C. / Cognitive scores in carriers of Huntington's disease gene compared to noncarriers. In: Annals of Neurology. 1995 ; Vol. 37, No. 5. pp. 657-664.
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