Sexual Reassignment Fails to Prevent Kennedy's Disease

Tyler A. Lanman; Dara Bakar; Nisha M. Badders; Ailbhe Burke; Angela Kokkinis; Joseph A. Shrader; Galen O. Joe; Alice B. Schindler; Laura C. Bott; George G. Harmison; J. Paul Taylor; Kenneth H. Fischbeck; Christopher Grunseich

doi:10.3233/JND-150128

Sexual Reassignment Fails to Prevent Kennedy's Disease

Tyler A. Lanman^*, Dara Bakar, Nisha M. Badders, Ailbhe Burke, Angela Kokkinis, Joseph A. Shrader, Galen O. Joe, Alice B. Schindler, Laura C. Bott, George G. Harmison, J. Paul Taylor, Kenneth H. Fischbeck, Christopher Grunseich

^*Corresponding author for this work

Molecular Biosciences

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

6 Scopus citations

Abstract

Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and findings are only fully manifest in males. Here we describe a 40-year-old male-to-female transgender SBMA patient who developed full disease manifestations despite undetectable levels of androgens. We used cell culture and animal models to show that spironolactone, the anti-androgen she had taken for 15 years, promotes nuclear localization and toxicity of the mutant protein, which may explain the disease manifestations in this patient.

Original language	English (US)
Pages (from-to)	121-125
Number of pages	5
Journal	Journal of neuromuscular diseases
Volume	3
Issue number	1
DOIs	https://doi.org/10.3233/JND-150128
State	Published - 2016

Keywords

Motor neuron disease
X-Linked
androgen
bulbo-spinal atrophy
receptors
spironolactone

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.3233/JND-150128

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title = "Sexual Reassignment Fails to Prevent Kennedy's Disease",

abstract = "Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and findings are only fully manifest in males. Here we describe a 40-year-old male-to-female transgender SBMA patient who developed full disease manifestations despite undetectable levels of androgens. We used cell culture and animal models to show that spironolactone, the anti-androgen she had taken for 15 years, promotes nuclear localization and toxicity of the mutant protein, which may explain the disease manifestations in this patient.",

keywords = "Motor neuron disease, X-Linked, androgen, bulbo-spinal atrophy, receptors, spironolactone",

author = "Lanman, {Tyler A.} and Dara Bakar and Badders, {Nisha M.} and Ailbhe Burke and Angela Kokkinis and Shrader, {Joseph A.} and Joe, {Galen O.} and Schindler, {Alice B.} and Bott, {Laura C.} and Harmison, {George G.} and Taylor, {J. Paul} and Fischbeck, {Kenneth H.} and Christopher Grunseich",

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AU - Lanman, Tyler A.

AU - Bakar, Dara

AU - Badders, Nisha M.

AU - Burke, Ailbhe

AU - Kokkinis, Angela

AU - Shrader, Joseph A.

AU - Joe, Galen O.

AU - Schindler, Alice B.

AU - Bott, Laura C.

AU - Harmison, George G.

AU - Taylor, J. Paul

AU - Fischbeck, Kenneth H.

AU - Grunseich, Christopher

PY - 2016

Y1 - 2016

N2 - Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and findings are only fully manifest in males. Here we describe a 40-year-old male-to-female transgender SBMA patient who developed full disease manifestations despite undetectable levels of androgens. We used cell culture and animal models to show that spironolactone, the anti-androgen she had taken for 15 years, promotes nuclear localization and toxicity of the mutant protein, which may explain the disease manifestations in this patient.

AB - Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and findings are only fully manifest in males. Here we describe a 40-year-old male-to-female transgender SBMA patient who developed full disease manifestations despite undetectable levels of androgens. We used cell culture and animal models to show that spironolactone, the anti-androgen she had taken for 15 years, promotes nuclear localization and toxicity of the mutant protein, which may explain the disease manifestations in this patient.

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KW - receptors

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Sexual Reassignment Fails to Prevent Kennedy's Disease

Abstract

Keywords

ASJC Scopus subject areas

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