Phenotypic heterogeneity in huntington disease

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

doi:10.3109/01677068409107083

Phenotypic heterogeneity in huntington disease

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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.

Original language	English (US)
Pages (from-to)	175-184
Number of pages	10
Journal	Journal of Neurogenetics
Volume	1
Issue number	2
DOIs	https://doi.org/10.3109/01677068409107083
State	Published - 1984

Keywords

Genetics
Huntington disease
Linkage study
Major affective disorder
Neuropsychiatry
Phenotypic heterogeneity

ASJC Scopus subject areas

Genetics
Cellular and Molecular Neuroscience

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title = "Phenotypic heterogeneity in huntington disease",

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 = "Genetics, Huntington disease, Linkage study, Major affective disorder, Neuropsychiatry, Phenotypic heterogeneity",

author = "Folstein, {Susan E.} and Abbott, {Margaret H.} and Franz, {Mary Louise} and Suzanne Huang and Chase, {Gary A.} and Folstein, {Marshal F.}",

note = "Funding Information: This work was supported by NIH Grant Pol-NS-16375.",

year = "1984",

doi = "10.3109/01677068409107083",

language = "English (US)",

volume = "1",

pages = "175--184",

journal = "Journal of Neurogenetics",

issn = "0167-7063",

publisher = "Informa Healthcare",

number = "2",

}

TY - JOUR

T1 - Phenotypic heterogeneity in huntington disease

AU - Folstein, Susan E.

AU - Abbott, Margaret H.

AU - Franz, Mary Louise

AU - Huang, Suzanne

AU - Chase, Gary A.

AU - Folstein, Marshal F.

N1 - Funding Information: This work was supported by NIH Grant Pol-NS-16375.

PY - 1984

Y1 - 1984

N2 - 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.

AB - 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.

KW - Genetics

KW - Huntington disease

KW - Linkage study

KW - Major affective disorder

KW - Neuropsychiatry

KW - Phenotypic heterogeneity

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JO - Journal of Neurogenetics

JF - Journal of Neurogenetics

IS - 2

ER -

Phenotypic heterogeneity in huntington disease

Abstract

Keywords

ASJC Scopus subject areas

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