Phenotypic Heterogeneity in Huntington Disease

Susan E. Folstein Department of Psychiatry and Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

Margaret H. Abbott Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

Mary Louise Franz Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

Suzanne Huang Department of Psychiatry and Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

Gary A. Chase Department of Psychiatry and Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

Marshal F. Folstein Department of Psychiatry and Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

Abstract

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.

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Phenotypic Heterogeneity in Huntington Disease

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Phenotypic Heterogeneity in Huntington Disease

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