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Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis

Ingram, G; Barwick, KE; Hartley, L; McEntagart, M; Crosby, AH; Llewelyn, G; Morris, HR; (2016) Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. Practical Neurology , 16 (3) pp. 247-251. 10.1136/practneurol-2015-001307. Green open access

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Abstract

Patients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. We present a mother and daughter with a rare form of distal hereditary motor neuropathy type 7 in whom the diagnosis became apparent by initial difficulty in singing, from early vocal cord dysfunction. This rare neuropathy has now been identified in two apparently unrelated families in Wales. This family's clinical presentation is typical of distal hereditary motor neuropathy type 7, and they have the common truncating mutation in the SLC5A7 gene. Advances in genetic analysis of these rare conditions broaden our understanding of their potential molecular mechanisms and may allow more directed therapy.

Type: Article
Title: Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/practneurol-2015-001307
Publisher version: http://dx.doi.org/10.1136/practneurol-2015-001307
Language: English
Additional information: Copyright © 2016 The authors. Published by the BMJ Publishing Group Ltd. All rights reserved. This article has been accepted for publication in Practical Neurology following peer review. The definitive copyedited, typeset version [Ingram, G; Barwick, KE; Hartley, L; McEntagart, M; Crosby, AH; Llewelyn, G; Morris, HR; (2016) Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. Practical Neurology, 16 (3) pp. 247-251. 10.1136/practneurol-2015-001307] is available online at http://pn.bmj.com/content/16/3/247.full
UCL classification: UCL
UCL > Provost and Vice Provost Offices
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 > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1498329
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