UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

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

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. Green open access

[thumbnail of Fratta VoR 808.full.pdf]
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
Downloads since deposit
91Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item