Subtle changes among presymptomatic carriers of the Huntington's disease gene

S. C. Kirkwood, E. Siemers, M. E. Hodes, P. M. Conneally, J. C. Christian, Tatiana Foroud

Research output: Contribution to journalArticle

106 Citations (Scopus)

Abstract

Objectives - To compare the neurological and psychometric characteristics of presymptomatic gene carriers and non-gene carriers who are at risk for developing Huntington's disease so as to characterise early signs of disease and to identify markers of neurological function that could be used to assess the impact of experimental therapies on the progression of diseases even among those who are clinically presymptomatic. Methods - A sample of people at risk for Huntington's disease was genotyped and evaluated using subscales of the Wechsler adult intelligence scale-revised (WAIS-R), a quantified neurological rating scales and computerised physiological measures including speed of movement and reaction time. Results - Genotyping and clinical examination determined that 171 participants were presymptomatic gene carriers (PSGCs) and 414 participants were non-gene carriers (NGCs). The PSGCs performed significantly worse when compared with the NGCs on the digit symbols picture arrangements and arithmetic subscales of the WAIS-R (p<0.02) and for the physiological measures: button tapping, auditory reaction time, visual reaction time with decision, and movement time with and without decision (p<0.05). Although no PSGCs had sufficient neurological findings to warrant a diagnosis of Huntington's disease on clinical examination, the PSGCs had more frequent possible or definite abnormality for oculomotor functions chorea, muscle stretch reflexes, gait, and station stability, and rapid alternating movements (p≤0.02). Conclusions - Among Huntington's disease gene carriers, subtle cognitive and motor deficits precede the onset of sufficient neurological abnormality to warrant a clinical diagnosis of Huntington's disease.

Original languageEnglish
Pages (from-to)773-779
Number of pages7
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume69
Issue number6
DOIs
StatePublished - 2000

Fingerprint

Huntington Disease
Genes
Reaction Time
Intelligence
Stretch Reflex
Chorea
Investigational Therapies
Gait
Psychometrics
Disease Progression
Muscles

Keywords

  • Early clinical signs
  • Huntington's disease
  • Presymptomatic gene carriers

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

Subtle changes among presymptomatic carriers of the Huntington's disease gene. / Kirkwood, S. C.; Siemers, E.; Hodes, M. E.; Conneally, P. M.; Christian, J. C.; Foroud, Tatiana.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 69, No. 6, 2000, p. 773-779.

Research output: Contribution to journalArticle

Kirkwood, S. C. ; Siemers, E. ; Hodes, M. E. ; Conneally, P. M. ; Christian, J. C. ; Foroud, Tatiana. / Subtle changes among presymptomatic carriers of the Huntington's disease gene. In: Journal of Neurology, Neurosurgery and Psychiatry. 2000 ; Vol. 69, No. 6. pp. 773-779.
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