Diseases

Pelizaeus-Merzbacher Disease

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

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MeSH Record

Synonyms

26 entry terms
  • Leukodystrophy, Hypomyelinating, 1
  • Pelizaeus-Merzbacher Brain Sclerosis
  • Pelizaeus-Merzbacher Sclerosis, Brain
  • Brain Pelizaeus-Merzbacher Sclerosis
  • Brain Sclerosis, Pelizaeus-Merzbacher
  • Pelizaeus Merzbacher Brain Sclerosis
  • Pelizaeus Merzbacher Disease
  • Pelizaeus Merzbacher Sclerosis, Brain
  • Adult Pelizaeus-Merzbacher Disease
  • Atypical Pelizaeus-Merzbacher Disease
  • Classic Pelizaeus-Merzbacher Disease
  • Cockayne-Pelizaeus-Merzbacher Disease
  • Pelizaeus-Merzbacher Disease, Adult
  • Pelizaeus-Merzbacher Disease, Atypical
  • Pelizaeus-Merzbacher Disease, Classic
  • Pelizaeus-Merzbacher Disease, Transitional
  • Transitional Pelizaeus-Merzbacher Disease
  • Adult Pelizaeus Merzbacher Disease
  • Atypical Pelizaeus Merzbacher Disease
  • Classic Pelizaeus Merzbacher Disease
  • Cockayne Pelizaeus Merzbacher Disease
  • Pelizaeus Merzbacher Disease, Adult
  • Pelizaeus Merzbacher Disease, Atypical
  • Pelizaeus Merzbacher Disease, Classic
  • Pelizaeus Merzbacher Disease, Transitional
  • Transitional Pelizaeus Merzbacher Disease

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999

MeSH Record

Previous Indexing

  • Diffuse Cerebral Sclerosis of Schilder (1966-1999)
  • Multiple Sclerosis (1966-1999)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.362w.775w
  2. C10w.228w.140w.695w.625w.775w
  3. C10w.314w.400w.775w
  4. C16w.320w.322.906w
  5. C16w.320w.565w.189.362w.775w
  6. C18.452w.132.100.362w.775w
  7. C18.452w.648w.189.362w.775w

AMA Style

References

  1. National Library of Medicine. Pelizaeus-Merzbacher Disease. Medical Subject Headings (MeSH). 2026. Unique ID D020371. http://id.nlm.nih.gov/mesh/2026/D020371
  2. Pelizaeus-Merzbacher Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Pelizaeus%E2%80%93Merzbacher_disease
  3. Pelizaeus-Merzbacher Disease. In: Wikidata. https://www.wikidata.org/wiki/Q1876206