Cag repeat size and clinical presentation in huntington’s disease

Tetsuo Ashizawa, L. J C Wong, Carolyn (Sue) Richards, C. T. Caskey, J. Jankovic

Research output: Contribution to journalArticle

53 Citations (Scopus)

Abstract

The specific mutation in Huntington's disease (HD) is an expansion of theunstable CAG trinucleotide repeat in the IT 15 gene in chromosome 4p. We examined the relationship between the CAG repeat size and clinical presentation in 36 patients with suspected diagnosis of HD. Twelve patients had no relatives with documented HD, and five of them failed to show the expanded (>37) CAG repeats. The remaining 31 patients, including seven patients with atypical clinical features for HD (three without and four with family history of documented HD), were heterozygotes for the CAG repeat expansion. There were large CAG repeats (50 copies) in paternally transmitted HD cases with early onset (age 30 or earlier). The rate of disease progression was faster in paternally transmitted cases regardless of the CAG repeat length or age of onset. We conclude that (1) patients lacking the family history of HD frequently show no expansion of the CAG repeats, and (2) the sex of the affected parent influences both the CAG repeat size and the phenotypic expression of the HD gene in the offspring.

Original languageEnglish (US)
Pages (from-to)1137-1143
Number of pages7
JournalNeurology
Volume44
Issue number6
StatePublished - 1994
Externally publishedYes

Fingerprint

Huntington Disease
Age of Onset
Trinucleotide Repeats
Repeats
Heterozygote
Genes
Disease Progression
Chromosomes
Mutation

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Ashizawa, T., Wong, L. J. C., Richards, C. S., Caskey, C. T., & Jankovic, J. (1994). Cag repeat size and clinical presentation in huntington’s disease. Neurology, 44(6), 1137-1143.

Cag repeat size and clinical presentation in huntington’s disease. / Ashizawa, Tetsuo; Wong, L. J C; Richards, Carolyn (Sue); Caskey, C. T.; Jankovic, J.

In: Neurology, Vol. 44, No. 6, 1994, p. 1137-1143.

Research output: Contribution to journalArticle

Ashizawa, T, Wong, LJC, Richards, CS, Caskey, CT & Jankovic, J 1994, 'Cag repeat size and clinical presentation in huntington’s disease', Neurology, vol. 44, no. 6, pp. 1137-1143.
Ashizawa T, Wong LJC, Richards CS, Caskey CT, Jankovic J. Cag repeat size and clinical presentation in huntington’s disease. Neurology. 1994;44(6):1137-1143.
Ashizawa, Tetsuo ; Wong, L. J C ; Richards, Carolyn (Sue) ; Caskey, C. T. ; Jankovic, J. / Cag repeat size and clinical presentation in huntington’s disease. In: Neurology. 1994 ; Vol. 44, No. 6. pp. 1137-1143.
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