GCH1 expression in human cerebellum from healthy individuals is not gender dependant

Christian Wider; Sarah Lincoln; Justus C. Dachsel; Gregory Kapatos; Michael G. Heckman; Nancy N. Diehl; Spiridon Papapetropoulos; Deborah Mash; Alex Rajput; Ali H. Rajput; Dennis W. Dickson; Zbigniew K. Wszolek; Matthew J. Farrer

doi:10.1016/j.neulet.2009.06.082

GCH1 expression in human cerebellum from healthy individuals is not gender dependant

Christian Wider, Sarah Lincoln, Justus C. Dachsel, Gregory Kapatos, Michael G. Heckman, Nancy N. Diehl, Spiridon Papapetropoulos, Deborah Mash, Alex Rajput, Ali H. Rajput, Dennis W. Dickson, Zbigniew K. Wszolek, Matthew J. Farrer

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

1 Scopus citations

Abstract

Dopa-responsive dystonia (DRD) is a familial childhood-onset disease characterized by fluctuating dystonia, associated with tremor and parkinsonism in some patients. In most families the disease displays autosomal dominant inheritance due to mutations in the GTP cyclohydrolase 1 gene (GCH1). Penetrance and symptom severity display strong female predominance for which gender-specific GCH1 expression has been hypothesized. In this study, GCH1 mRNA expression was measured in cerebellar tissue from 66 healthy human subjects (30 women), and in cerebellar and nigral tissue from eight individuals. No significant difference was found between men and women with small effect sizes observed. Although the correlation between cerebellar and nigral GCH1 expression remains to be further examined, this exploratory study does not support gender-specific GCH1 expression being the basis for the skewed gender distribution observed in DRD patients.

Original language	English (US)
Pages (from-to)	73-75
Number of pages	3
Journal	Neuroscience Letters
Volume	462
Issue number	1
DOIs	https://doi.org/10.1016/j.neulet.2009.06.082
State	Published - Sep 18 2009

Keywords

DRD
Dopa-responsive dystonia
GCH1 expression
Gender distribution

ASJC Scopus subject areas

General Neuroscience

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10.1016/j.neulet.2009.06.082

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@article{1a6089a991f345b4853acc772c798c76,

title = "GCH1 expression in human cerebellum from healthy individuals is not gender dependant",

abstract = "Dopa-responsive dystonia (DRD) is a familial childhood-onset disease characterized by fluctuating dystonia, associated with tremor and parkinsonism in some patients. In most families the disease displays autosomal dominant inheritance due to mutations in the GTP cyclohydrolase 1 gene (GCH1). Penetrance and symptom severity display strong female predominance for which gender-specific GCH1 expression has been hypothesized. In this study, GCH1 mRNA expression was measured in cerebellar tissue from 66 healthy human subjects (30 women), and in cerebellar and nigral tissue from eight individuals. No significant difference was found between men and women with small effect sizes observed. Although the correlation between cerebellar and nigral GCH1 expression remains to be further examined, this exploratory study does not support gender-specific GCH1 expression being the basis for the skewed gender distribution observed in DRD patients.",

keywords = "DRD, Dopa-responsive dystonia, GCH1 expression, Gender distribution",

author = "Christian Wider and Sarah Lincoln and Dachsel, {Justus C.} and Gregory Kapatos and Heckman, {Michael G.} and Diehl, {Nancy N.} and Spiridon Papapetropoulos and Deborah Mash and Alex Rajput and Rajput, {Ali H.} and Dickson, {Dennis W.} and Wszolek, {Zbigniew K.} and Farrer, {Matthew J.}",

note = "Funding Information: C.W. is supported by the Swiss National Science Foundation (PASMP3-123268/1), the Swiss Parkinson Foundation, and the Robert H. and Clarice Smith and the M.L. Simpson Foundation Trust. M.J.F., Z.K.W. and D.W.D. are supported by the Morris K. Udall Center of Excellence for Parkinson's Disease Research (P50-NS40256), and by the Pacific Alzheimer Research Foundation (PARF) grant C06-01. G.K. is supported by grant NS26081 from the NINDS.",

year = "2009",

month = sep,

day = "18",

doi = "10.1016/j.neulet.2009.06.082",

language = "English (US)",

volume = "462",

pages = "73--75",

journal = "Neuroscience Letters",

issn = "0304-3940",

publisher = "Elsevier Ireland Ltd",

number = "1",

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T1 - GCH1 expression in human cerebellum from healthy individuals is not gender dependant

AU - Wider, Christian

AU - Lincoln, Sarah

AU - Dachsel, Justus C.

AU - Kapatos, Gregory

AU - Heckman, Michael G.

AU - Diehl, Nancy N.

AU - Papapetropoulos, Spiridon

AU - Mash, Deborah

AU - Rajput, Alex

AU - Rajput, Ali H.

AU - Dickson, Dennis W.

AU - Wszolek, Zbigniew K.

AU - Farrer, Matthew J.

N1 - Funding Information: C.W. is supported by the Swiss National Science Foundation (PASMP3-123268/1), the Swiss Parkinson Foundation, and the Robert H. and Clarice Smith and the M.L. Simpson Foundation Trust. M.J.F., Z.K.W. and D.W.D. are supported by the Morris K. Udall Center of Excellence for Parkinson's Disease Research (P50-NS40256), and by the Pacific Alzheimer Research Foundation (PARF) grant C06-01. G.K. is supported by grant NS26081 from the NINDS.

PY - 2009/9/18

Y1 - 2009/9/18

N2 - Dopa-responsive dystonia (DRD) is a familial childhood-onset disease characterized by fluctuating dystonia, associated with tremor and parkinsonism in some patients. In most families the disease displays autosomal dominant inheritance due to mutations in the GTP cyclohydrolase 1 gene (GCH1). Penetrance and symptom severity display strong female predominance for which gender-specific GCH1 expression has been hypothesized. In this study, GCH1 mRNA expression was measured in cerebellar tissue from 66 healthy human subjects (30 women), and in cerebellar and nigral tissue from eight individuals. No significant difference was found between men and women with small effect sizes observed. Although the correlation between cerebellar and nigral GCH1 expression remains to be further examined, this exploratory study does not support gender-specific GCH1 expression being the basis for the skewed gender distribution observed in DRD patients.

AB - Dopa-responsive dystonia (DRD) is a familial childhood-onset disease characterized by fluctuating dystonia, associated with tremor and parkinsonism in some patients. In most families the disease displays autosomal dominant inheritance due to mutations in the GTP cyclohydrolase 1 gene (GCH1). Penetrance and symptom severity display strong female predominance for which gender-specific GCH1 expression has been hypothesized. In this study, GCH1 mRNA expression was measured in cerebellar tissue from 66 healthy human subjects (30 women), and in cerebellar and nigral tissue from eight individuals. No significant difference was found between men and women with small effect sizes observed. Although the correlation between cerebellar and nigral GCH1 expression remains to be further examined, this exploratory study does not support gender-specific GCH1 expression being the basis for the skewed gender distribution observed in DRD patients.

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KW - Dopa-responsive dystonia

KW - GCH1 expression

KW - Gender distribution

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GCH1 expression in human cerebellum from healthy individuals is not gender dependant

Abstract

Keywords

ASJC Scopus subject areas

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