Phenotypic heterogeneity in huntington disease

Susan E. Folstein, Margaret H. Abbott, Mary Louise Franz, Suzanne Huang, Gary A. Chase, Marshal F. Folstein

Research output: Contribution to journalArticlepeer-review


Two Huntington disease (HD) pedigrees are presented which differ according to mean and distribution of the age at onset, the effect of paternal transmission on the age at onset, presence of manic-depressive symptoms, and type of presenting symptoms. Together with previous reports, the data suggest clinical heterogeneity between HD kindreds which may imply some kind of genetic heterogeneity, most likely subsequent mutation at a single HD locus. The possibility of genetic heterogeneity has important consequences, both in research, and in the counseling and care of families and patients with differing manifestations of the disease.

Original languageEnglish (US)
Pages (from-to)175-184
Number of pages10
JournalJournal of Neurogenetics
Issue number2
StatePublished - 1984


  • Genetics
  • Huntington disease
  • Linkage study
  • Major affective disorder
  • Neuropsychiatry
  • Phenotypic heterogeneity

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience


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