Phenotypic Heterogeneity in Huntington Disease
- 1 January 1984
- journal article
- research article
- Published by Taylor & Francis in Journal of Neurogenetics
- Vol. 1 (2) , 175-184
- https://doi.org/10.3109/01677068409107083
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.Keywords
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