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Pelizaeus-Merzbacher Disease MeSH Descriptor Data 2022


MeSH Heading
Pelizaeus-Merzbacher Disease
Tree Number(s)
C10.228.140.163.100.362.775
C10.228.140.695.625.775
C10.314.400.775
C16.320.322.906
C16.320.565.189.362.775
C18.452.132.100.362.775
C18.452.648.189.362.775
Unique ID
D020371
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D020371
Scope Note
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)
Entry Version
PELIZAEUS MERZBACHER DIS
Entry Term(s)
Adult Pelizaeus-Merzbacher Disease
Atypical Pelizaeus-Merzbacher Disease
Classic Pelizaeus-Merzbacher Disease
Cockayne-Pelizaeus-Merzbacher Disease
Leukodystrophy, Hypomyelinating, 1
Pelizaeus-Merzbacher Brain Sclerosis
Pelizaeus-Merzbacher Disease, Adult
Pelizaeus-Merzbacher Disease, Atypical
Pelizaeus-Merzbacher Disease, Classic
Pelizaeus-Merzbacher Disease, Transitional
Pelizaeus-Merzbacher Sclerosis, Brain
Transitional Pelizaeus-Merzbacher Disease
Previous Indexing
Diffuse Cerebral Sclerosis of Schilder (1966-1999)
Multiple Sclerosis (1966-1999)
See Also
Myelin Proteolipid Protein
Public MeSH Note
2000; see CEREBRAL SCLEROSIS, DIFFUSE 1979-1999
History Note
2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999
Date Established
2000/01/01
Date of Entry
1999/11/04
Revision Date
2016/02/26
Pelizaeus-Merzbacher Disease Preferred
Pelizaeus-Merzbacher Disease, Transitional Narrower
Cockayne-Pelizaeus-Merzbacher Disease Narrower
Pelizaeus-Merzbacher Disease, Atypical Narrower
Adult Pelizaeus-Merzbacher Disease Narrower
Classic Pelizaeus-Merzbacher Disease Narrower
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