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© Research
Publication : Neurology. Clinical practice

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Neurology. Clinical practice - 01 Apr 2021

Akdal G, Koçoğlu K, Bora E, Koç A, Ülgenalp A, Bedir M, Ala RT, Battaloğlu E, Kırkım G, Şengün İŞ, Halmágyi GM

Link to Pubmed [PMID] – 33842081

Link to DOI – 10.1212/CPJ.0000000000000930

Neurol Clin Pract 2021 Apr; 11(2): e129-e134

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.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.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.