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

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 hea...

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Detalles Bibliográficos
Autores principales: Akdal, Gülden, Koçoğlu, Koray, Bora, Elçin, Koç, Altuğ, Ülgenalp, Ayfer, Bedir, Mithat, Ala, Rahmi Tümay, Battaloğlu, Esra, Kırkım, Günay, Şengün, İhsan Şükrü, Halmágyi, Gábor Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8032420/
https://www.ncbi.nlm.nih.gov/pubmed/33842081
http://dx.doi.org/10.1212/CPJ.0000000000000930
Descripción
Sumario: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.