Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1783366114592423936 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6204939 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT manzanoraquel beyondmotorneuronsexpandingtheclinicalspectruminkennedysdisease AT sorarugianni beyondmotorneuronsexpandingtheclinicalspectruminkennedysdisease AT grunseichchristopher beyondmotorneuronsexpandingtheclinicalspectruminkennedysdisease AT frattapietro beyondmotorneuronsexpandingtheclinicalspectruminkennedysdisease AT zuccaroemanuela beyondmotorneuronsexpandingtheclinicalspectruminkennedysdisease AT pennutomaria beyondmotorneuronsexpandingtheclinicalspectruminkennedysdisease AT rinaldicarlo beyondmotorneuronsexpandingtheclinicalspectruminkennedysdisease |