Pelizaeus-Merzbacher Disease

N. I. Wolf

doi:https://doi.org/10.1016/B978-0-12-374105-9.00369-5

Pelizaeus-Merzbacher Disease

N. I. Wolf

Pediatric surgery (VUmc)

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, Three-Volume Set
Publisher	Elsevier
Pages	V2-441-V2-444
ISBN (Electronic)	9780123741059
ISBN (Print)	9780123741011
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00369-5
Publication status	Published - 1 Jan 2010

Publication series

Name	Encyclopedia of Movement Disorders

Keywords

Ataxia
Duplication
Dystonia
Hypomyelination
Nystagmus
PLP1
Pelizaeus-Merzbacher disease
Spasticity
X-linked

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https://doi.org/10.1016/B978-0-12-374105-9.00369-5

Cite this

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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.

KW - Ataxia

KW - Duplication

KW - Dystonia

KW - Hypomyelination

KW - Nystagmus

KW - PLP1

KW - Pelizaeus-Merzbacher disease

KW - Spasticity

KW - X-linked

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DO - https://doi.org/10.1016/B978-0-12-374105-9.00369-5

M3 - Chapter

SN - 9780123741011

T3 - Encyclopedia of Movement Disorders

SP - V2-441-V2-444

BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

Pelizaeus-Merzbacher Disease

Abstract

Publication series

Keywords

Access to Document

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