Journal article
Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations
Annals of the New York Academy of Sciences, Vol.883(1), pp.351-365
10/1999
DOI: 10.1111/j.1749-6632.1999.tb08597.x
PMID: 10586260
Abstract
Pelizaeus‐Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system typically caused by duplications or missense mutations of the proteolipid protein (PLP) gene. Most investigators have found that peripheral nerve function and structure is normal in PMD patients. We have found that null mutations of the PLP gene cause demyelinating peripheral neuropathy, whereas duplications and a proline 14 to leucine mutation do not affect nerve function. A family with a nonsense mutation at position 144, which affects only PLP but not the alternatively spliced gene product DM20, has a very mild syndrome, including normal peripheral nerve function. Our findings suggest that DM20 alone is sufficient to maintain normal nerve function and that there may be domains of PLP/DM20 that have a relatively more active role in the peripheral nervous system compared with that in the central nervous system.
Details
- Title: Subtitle
- Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations
- Creators
- JAMES Y GARBERNFRANCA CAMBIRICHARD LEWISMICHAEL SHYANDERS SIMAGEORGE KRAFTJ. M VALLATE. P BOSCHM. E HODESSTEPHEN DLOUHYWENDY RASKINDTHOMAS BIRDWENDY MACKLINJOHN KAMHOLZ
- Resource Type
- Journal article
- Publication Details
- Annals of the New York Academy of Sciences, Vol.883(1), pp.351-365
- DOI
- 10.1111/j.1749-6632.1999.tb08597.x
- PMID
- 10586260
- NLM abbreviation
- Ann N Y Acad Sci
- ISSN
- 0077-8923
- eISSN
- 1749-6632
- Publisher
- Blackwell Publishing Ltd; Oxford, UK
- Number of pages
- 15
- Language
- English
- Date published
- 10/1999
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020864002771
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