Neurol Clin Pract 2021 Apr;11(2):e129-e134
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.
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 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 mutation: c. Read More