RT Journal Article SR Electronic T1 Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation JF Neurology: Clinical Practice FD Lippincott Williams & Wilkins SP e129 OP e134 DO 10.1212/CPJ.0000000000000930 VO 11 IS 2 A1 Gülden Akdal A1 Koray Koçoğlu A1 Elçin Bora A1 Altuğ Koç A1 Ayfer Ülgenalp A1 Mithat Bedir A1 Rahmi Tümay Ala A1 Esra Battaloğlu A1 Günay Kırkım A1 İhsan Şükrü Şengün A1 Gábor Michael Halmágyi YR 2021 UL http://cp.neurology.org/content/11/2/e129.abstract AB 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.