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Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation
Gülden Akdal1, Koray Koçoğlu1, Elçin Bora1
1Department 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.
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.
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