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Genetic heterogeneity of motor neuropathies

Lookup NU author(s): Dr Boglárka Bánsági, Dr Helen Griffin, Dr Roger Whittaker, Dr Teresinha Evangelista, Dr James Miller, Dr Jennifer Duff, Dr Veronika Boczonadi, Dr Hannah Steele, Dr Vankateswara Ramesh, Dr Angela Pyle, Professor Hanns Lochmuller, Professor Patrick Chinnery, Professor Rita Horvath

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. Objective: To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. Methods: Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 patients), axonal motor neuropathy (motor Charcot-Marie-Tooth disease [CMT2], 16 patients), or complex neurologic disease predominantly affecting the motor nerves (hereditary motor neuropathy plus, 25 patients). Results: The prevalence of dHMN is 2.14 affected individuals per 100,000 inhabitants (95% confidence interval 1.62-2.66) in the North of England. Causative mutations were identified in 26 out of 73 index patients (35.6%). The diagnostic rate in the dHMN subgroup was 32.5%, which is higher than previously reported (20%). We detected a significant defect of neuromuscular transmission in 7 cases and identified potentially causative mutations in 4 patients with multifocal demyelinating motor neuropathy. Conclusions: Many of the genes were shared between dHMN and motor CMT2, indicating identical disease mechanisms; therefore, we suggest changing the classification and including dHMN also as a subcategory of Charcot-Marie-Tooth disease. Abnormal neuromuscular transmission in some genetic forms provides a treatable target to develop therapies.


Publication metadata

Author(s): Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmuller H, Chinnery PF, Horvath R

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2017

Volume: 88

Issue: 13

Pages: 1226-1234

Print publication date: 28/03/2017

Online publication date: 01/03/2017

Acceptance date: 06/01/2017

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams and Wilkins

URL: https://doi.org/10.1212/WNL.0000000000003772

DOI: 10.1212/WNL.0000000000003772


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