Pelizaeus-Merzbacher Disease

N. I. Wolf

doi:10.1016/B978-0-12-374105-9.00369-5

Pelizaeus-Merzbacher Disease

N. I. Wolf

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Abstract

Pelizaeus-Merzbacher disease (PMD) is a rare disorder with X-linked inheritance. The leading symptoms are nystagmus and spastic paraplegia. MRI shows hypomyelination of the central nervous system. The disease is caused by alterations, most often duplications, of the PLP1 gene. There are also autosomal-recessive forms (PMLD); these are heterogeneous.

Original language	English
Title of host publication	Encyclopedia of Movement Disorders
Publisher	Elsevier Inc.
Pages	441-444
ISBN (Electronic)	9780123741059
ISBN (Print)	9780123741011
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00369-5
Publication status	Published - 2010

Publication series

Name	Encyclopedia of Movement Disorders

Access to Document

10.1016/B978-0-12-374105-9.00369-5

https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85069834522&origin=inward

Cite this

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title = "Pelizaeus-Merzbacher Disease",

abstract = "Pelizaeus-Merzbacher disease (PMD) is a rare disorder with X-linked inheritance. The leading symptoms are nystagmus and spastic paraplegia. MRI shows hypomyelination of the central nervous system. The disease is caused by alterations, most often duplications, of the PLP1 gene. There are also autosomal-recessive forms (PMLD); these are heterogeneous.",

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AB - Pelizaeus-Merzbacher disease (PMD) is a rare disorder with X-linked inheritance. The leading symptoms are nystagmus and spastic paraplegia. MRI shows hypomyelination of the central nervous system. The disease is caused by alterations, most often duplications, of the PLP1 gene. There are also autosomal-recessive forms (PMLD); these are heterogeneous.

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85069834522&origin=inward

U2 - 10.1016/B978-0-12-374105-9.00369-5

DO - 10.1016/B978-0-12-374105-9.00369-5

M3 - Chapter

SN - 9780123741011

T3 - Encyclopedia of Movement Disorders

SP - 441

EP - 444

BT - Encyclopedia of Movement Disorders

PB - Elsevier Inc.

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