Phenotypic Heterogeneity in Huntington Disease
作者:
FolsteinSusan E.,
AbbottMargaret H.,
FranzMary Louise,
HuangSuzanne,
ChaseGary A.,
FolsteinMarshal F.,
期刊:
Journal of Neurogenetics
(Taylor Available online 1984)
卷期:
Volume 1,
issue 2
页码: 175-184
ISSN:0167-7063
年代: 1984
DOI:10.3109/01677068409107083
出版商: Taylor&Francis
关键词: Huntington disease;major affective disorder;genetics;linkage study;phenotypic heterogeneity;neuropsychiatry
数据来源: Taylor
摘要:
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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