Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
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.
Jen
Joanna
J
Department of Neurology, School of Medicine, University of California, Los Angeles, CA 90095-1769, United States.
Baloh
Robert H
RH
Ishiyama
Akira
A
Baloh
Robert W
RW
D000328:Adult; D005190:Family; D034381:Hearing Loss / Q000209:etiology / Q000503:physiopathology; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D009460:Neurologic Examination; D017354:Point Mutation; D011110:Polymorphism, Genetic; D015837:Vestibular Diseases / Q000235:genetics* / Q000503:physiopathology*; D014724:Vestibular Function Tests
D009185:Myelin Proteins; C073687:PMP22 protein, human