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Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease

Kennedy’s disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded tri...

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Autores principales: Manzano, Raquel, Sorarú, Gianni, Grunseich, Christopher, Fratta, Pietro, Zuccaro, Emanuela, Pennuto, Maria, Rinaldi, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204939/
https://www.ncbi.nlm.nih.gov/pubmed/29353237
http://dx.doi.org/10.1136/jnnp-2017-316961
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author Manzano, Raquel
Sorarú, Gianni
Grunseich, Christopher
Fratta, Pietro
Zuccaro, Emanuela
Pennuto, Maria
Rinaldi, Carlo
author_facet Manzano, Raquel
Sorarú, Gianni
Grunseich, Christopher
Fratta, Pietro
Zuccaro, Emanuela
Pennuto, Maria
Rinaldi, Carlo
author_sort Manzano, Raquel
collection PubMed
description Kennedy’s disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not entirely elucidated. Over the years studies from both humans and animal models have highlighted the involvement of cell populations other than motor neurons in SBMA, widening the disease phenotype. The most compelling aspect of these findings is their potential for therapeutic impact: muscle, for example, which is primarily affected in the disease, has been recently shown to represent a valid alternative target for therapy to motor neurons. In this review, we discuss the emerging study of the extra-motor neuron involvement in SBMA, which, besides increasingly pointing towards a multidisciplinary approach for affected patients, deepens our understanding of the pathogenic mechanisms and holds potential for providing new therapeutic targets for this disease.
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spelling pubmed-62049392018-10-30 Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease Manzano, Raquel Sorarú, Gianni Grunseich, Christopher Fratta, Pietro Zuccaro, Emanuela Pennuto, Maria Rinaldi, Carlo J Neurol Neurosurg Psychiatry Neurodegeneration Kennedy’s disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not entirely elucidated. Over the years studies from both humans and animal models have highlighted the involvement of cell populations other than motor neurons in SBMA, widening the disease phenotype. The most compelling aspect of these findings is their potential for therapeutic impact: muscle, for example, which is primarily affected in the disease, has been recently shown to represent a valid alternative target for therapy to motor neurons. In this review, we discuss the emerging study of the extra-motor neuron involvement in SBMA, which, besides increasingly pointing towards a multidisciplinary approach for affected patients, deepens our understanding of the pathogenic mechanisms and holds potential for providing new therapeutic targets for this disease. BMJ Publishing Group 2018-08 2018-01-20 /pmc/articles/PMC6204939/ /pubmed/29353237 http://dx.doi.org/10.1136/jnnp-2017-316961 Text en © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
spellingShingle Neurodegeneration
Manzano, Raquel
Sorarú, Gianni
Grunseich, Christopher
Fratta, Pietro
Zuccaro, Emanuela
Pennuto, Maria
Rinaldi, Carlo
Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
title Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
title_full Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
title_fullStr Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
title_full_unstemmed Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
title_short Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
title_sort beyond motor neurons: expanding the clinical spectrum in kennedy’s disease
topic Neurodegeneration
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204939/
https://www.ncbi.nlm.nih.gov/pubmed/29353237
http://dx.doi.org/10.1136/jnnp-2017-316961
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