Clinical findings in Pelizaeus-Merzbacher disease

Meredith Golomb, Larry Walsh, Karen S. Carvalho, Celanie K. Christensen, William E. DeMyer

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2 1/2 years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype.

Original languageEnglish
Pages (from-to)328-331
Number of pages4
JournalJournal of Child Neurology
Volume19
Issue number5
StatePublished - May 2004

Fingerprint

Pelizaeus-Merzbacher Disease
Proteolipids
Meconium Aspiration Syndrome
Mutation
Proteins
Muscle Hypotonia
Gene Duplication
Ataxia
Point Mutation
Codon
Leg
Sleep
Arm
Central Nervous System
Genotype
Mothers
Hypertension
Phenotype

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Golomb, M., Walsh, L., Carvalho, K. S., Christensen, C. K., & DeMyer, W. E. (2004). Clinical findings in Pelizaeus-Merzbacher disease. Journal of Child Neurology, 19(5), 328-331.

Clinical findings in Pelizaeus-Merzbacher disease. / Golomb, Meredith; Walsh, Larry; Carvalho, Karen S.; Christensen, Celanie K.; DeMyer, William E.

In: Journal of Child Neurology, Vol. 19, No. 5, 05.2004, p. 328-331.

Research output: Contribution to journalArticle

Golomb, M, Walsh, L, Carvalho, KS, Christensen, CK & DeMyer, WE 2004, 'Clinical findings in Pelizaeus-Merzbacher disease', Journal of Child Neurology, vol. 19, no. 5, pp. 328-331.
Golomb M, Walsh L, Carvalho KS, Christensen CK, DeMyer WE. Clinical findings in Pelizaeus-Merzbacher disease. Journal of Child Neurology. 2004 May;19(5):328-331.
Golomb, Meredith ; Walsh, Larry ; Carvalho, Karen S. ; Christensen, Celanie K. ; DeMyer, William E. / Clinical findings in Pelizaeus-Merzbacher disease. In: Journal of Child Neurology. 2004 ; Vol. 19, No. 5. pp. 328-331.
@article{387e44acabdc48579d7ec0dde3e73ed7,
title = "Clinical findings in Pelizaeus-Merzbacher disease",
abstract = "Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2 1/2 years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype.",
author = "Meredith Golomb and Larry Walsh and Carvalho, {Karen S.} and Christensen, {Celanie K.} and DeMyer, {William E.}",
year = "2004",
month = "5",
language = "English",
volume = "19",
pages = "328--331",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "5",

}

TY - JOUR

T1 - Clinical findings in Pelizaeus-Merzbacher disease

AU - Golomb, Meredith

AU - Walsh, Larry

AU - Carvalho, Karen S.

AU - Christensen, Celanie K.

AU - DeMyer, William E.

PY - 2004/5

Y1 - 2004/5

N2 - Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2 1/2 years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype.

AB - Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2 1/2 years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype.

UR - http://www.scopus.com/inward/record.url?scp=3042701677&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3042701677&partnerID=8YFLogxK

M3 - Article

VL - 19

SP - 328

EP - 331

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 5

ER -