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April 2021; 11 (2) ReviewOpen Access

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation

Gülden Akdal, Koray Koçoğlu, Elçin Bora, Altuğ Koç, Ayfer Ülgenalp, Mithat Bedir, Rahmi Tümay Ala, Esra Battaloğlu, Günay Kırkım, İhsan Şükrü Şengün, Gábor Michael Halmágyi
First published September 15, 2020, DOI: https://doi.org/10.1212/CPJ.0000000000000930
Gülden Akdal
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Koray Koçoğlu
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Elçin Bora
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Altuğ Koç
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Ayfer Ülgenalp
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
PhD
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Mithat Bedir
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Rahmi Tümay Ala
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Esra Battaloğlu
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Günay Kırkım
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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İhsan Şükrü Şengün
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Gábor Michael Halmágyi
Department of Neurology (GA, RTA, İŞŞ) and Department of Neurosciences (GA, KK), Institute of Health Sciences, Department of Medical Genetics (E. Bora, AK, AÜ), Dokuz Eylül University, İzmir, Turkey; Department of Neurology (MB), Mardin State Hospital, Mardin, Turkey; Department of Molecular Biology and Genetics (E. Battaloğlu), Boğaziçi University, İstanbul, Turkey; Hearing, Speech and Balance Unit (GK), Department of Otorhinolaryngology, Dokuz Eylül University, İzmir, Turkey; and Department of Neurology (GMH), Royal Prince Alfred Hospital, University of Sydney, Australia.
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Full PDF
Citation
Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation
Gülden Akdal, Koray Koçoğlu, Elçin Bora, Altuğ Koç, Ayfer Ülgenalp, Mithat Bedir, Rahmi Tümay Ala, Esra Battaloğlu, Günay Kırkım, İhsan Şükrü Şengün, Gábor Michael Halmágyi
Neurol Clin Pract Apr 2021, 11 (2) e129-e134; DOI: 10.1212/CPJ.0000000000000930

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Abstract

Purpose of Review To report the findings in 12 members over 3 generations of a family with dominantly inherited Charcot-Marie-Tooth disease (CMT1B) due to a novel MPZ mutation, who all had moderately severe selective impairment of vestibular function with normal hearing. Methods used were video head impulse testing of the function of all 6 semicircular canals, Romberg test on foam, nerve conduction studies, and whole exome and Sanger sequencing.

Recent Findings All affected patients had a demyelinating neuropathy and a novel MPZ mutation: c.362A>G (chr1: 161276584, p.D121G). All also had normal hearing for age but a moderately severe impairment of semicircular canal function and a positive Romberg test on foam.

Summary Some CMT mutations can impair vestibular function, presumably because of a vestibular nerve involvement but spare hearing. In such patients, impairment of vestibular function and impairment of proprioception contribute to imbalance.

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

  • The Article Processing Charge was funded by the authors.

  • Received December 19, 2019.
  • Accepted April 23, 2020.
  • Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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