Manzano, R;
Sorarú, G;
Grunseich, C;
Fratta, P;
Zuccaro, E;
Pennuto, M;
Rinaldi, C;
(2018)
Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.
Journal of Neurology, Neurosurgery & Psychiatry
, 89
(8)
pp. 808-812.
10.1136/jnnp-2017-316961.
Preview |
Text
Fratta VoR 808.full.pdf - Published Version Download (638kB) | Preview |
Abstract
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.
| Type: | Article |
|---|---|
| Title: | Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/jnnp-2017-316961 |
| Publisher version: | https://doi.org/10.1136/jnnp-2017-316961 |
| Language: | English |
| Additional information: | 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/ |
| Keywords: | Motor neuron disease, neurogenetics, neuromuscular |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10050764 |
Archive Staff Only
 |
View Item |
