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, T. Foroud

Research output: Contribution to journalArticlepeer-review

109 Scopus citations


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 (US)
Pages (from-to)773-779
Number of pages7
JournalJournal of Neurology Neurosurgery and Psychiatry
Issue number6
StatePublished - 2000


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

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of 'Subtle changes among presymptomatic carriers of the Huntington's disease gene'. Together they form a unique fingerprint.

Cite this