Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.

作者信息

Jen Joanna, Baloh Robert H, Ishiyama Akira, Baloh Robert W

机构信息

Department of Neurology, School of Medicine, University of California, Los Angeles, CA 90095-1769, United States.

出版信息

J Neurol Sci. 2005 Oct 15;237(1-2):21-4. doi: 10.1016/j.jns.2005.05.003.

We describe a father and daughter with Dejerine-Sottas syndrome and bilateral vestibular loss due to an L71P missense mutation in the peripheral myelin protein 22 (PMP22). The combination of vestibular loss and peripheral neuropathy led to profound imbalance at a young age. It is important to recognize this combination of peripheral nerve and vestibular deficits since rehabilitation strategies and prognosis are different.