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Literature DB >> 15992829

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

Joanna Jen¹, Robert H Baloh, Akira Ishiyama, Robert W Baloh.

Abstract

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.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2005 PMID： 15992829 DOI： 10.1016/j.jns.2005.05.003

Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181

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Cited

5 in total

1. Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.

Authors: D Kabzińska; E Sinkiewicz-Darol; I Hausmanowa-Petrusewicz; A Kochański
Journal: J Appl Genet Date: 2010 Impact factor: 3.240

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

1. Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.

2. Vestibular impairment in Charcot-Marie-Tooth disease.

Review 3. New evidence for secondary axonal degeneration in demyelinating neuropathies.

Review 4. Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation.

Review 5. Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).