Phenotypic Heterogeneity in Huntington Disease

被引：12

作者：

Folstein, Susan E. ^{[1
,2
]}

Abbott, Margaret H. ^{[2
]}

Franz, Mary Louise ^{[1
]}

Huang, Suzanne ^{[1
]}

Chase, Gary A. ^{[1
]}

Folstein, Marshal F. ^{[1
,2
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

[2] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA

来源：

JOURNAL OF NEUROGENETICS | 1984年 / 1卷 / 02期

关键词：

Huntington disease; major affective disorder; genetics; linkage study; phenotypic heterogeneity; neuropsychiatry;

D O I：

10.3109/01677068409107083

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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.

引用

页码：175 / 184

页数：10

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