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Lookup NU author(s): Dr Amina Chaouch, Dr Fiona Norwood, Professor Rita HorvathORCiD, Professor Patrick Chinnery, Dr Tuomo Polvikoski, Dr Anna Sarkozy, Dr Teresinha Evangelista, Dr Oksana Pogoryelova, Dr Michelle Eagle, Emerita Professor Katherine Bushby, Professor Volker StraubORCiD, Professor Hanns Lochmuller
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Objective GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing. Most of the current information on GNE myopathy has been obtained through studies of Jewish and Japanese patient cohorts carrying founder mutations in the GNE gene. However, little is known about GNE myopathy in Europe where the prevalence is thought to be very low.Methods Patients were referred through the National Specialist Commissioning Team service for limb-girdle muscular dystrophies at Newcastle (UK). All patients harbouring mutations in the GNE gene were recruited for our study. Detailed clinical and genetic data as well as muscle MRIs and muscle biopsies were reviewed.Results We identified 26 patients harbouring mutations in the GNE gene. Two previously reported mutations (c.1985C>T, p.Ala662Val and c.1225G>T, p.Asp409Tyr) were prevalent in the Scottish, Northern Irish and Northern English populations; with 90% of these patients carrying at least one of the two mutations. Clinically, we confirmed the homogenous pattern of selective quadriceps sparing but noted additional features like asymmetry of weakness at disease onset.Conclusions GNE myopathy is an important diagnosis to consider in patients presenting with distal leg muscle weakness. We report, for the first time, two common mutations in the north of Britain and highlight the broader spectrum of clinical phenotypes. We also propose that the prevalence of GNE myopathy may be underestimated due to the frequent absence of rimmed vacuoles in the muscle biopsy.
Author(s): Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmuller H
Publication type: Article
Publication status: Published
Journal: Journal of Neurology, Neurosurgery & Psychiatry
Year: 2014
Volume: 85
Issue: 12
Pages: 1359-1365
Print publication date: 01/12/2014
Online publication date: 02/04/2014
Acceptance date: 08/03/2014
ISSN (print): 0022-3050
ISSN (electronic): 1468-330X
Publisher: BMJ Publishing Group
URL: http://dx.doi.org/10.1136/jnnp-2013-306314
DOI: 10.1136/jnnp-2013-306314
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