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.
journal_name
Ann N Y Acad Scijournal_title
Annals of the New York Academy of Sciencesauthors
Garbern JY,Cambi F,Lewis R,Shy M,Sima A,Kraft G,Vallat JM,Bosch EP,Hodes ME,Dlouhy S,Raskind W,Bird T,Macklin W,Kamholz Jsubject
Has Abstractpub_date
1999-09-14 00:00:00pages
351-65eissn
0077-8923issn
1749-6632journal_volume
883pub_type
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