"Pelizaeus-Merzbacher Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D020371
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MeSH 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
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Concept/Terms |
Pelizaeus-Merzbacher Disease- Pelizaeus-Merzbacher Disease
- Pelizaeus Merzbacher Disease
- Pelizaeus-Merzbacher Sclerosis, Brain
- Brain Pelizaeus-Merzbacher Sclerosis
- Pelizaeus Merzbacher Sclerosis, Brain
- Leukodystrophy, Hypomyelinating, 1
- Pelizaeus-Merzbacher Brain Sclerosis
- Brain Sclerosis, Pelizaeus-Merzbacher
- Pelizaeus Merzbacher Brain Sclerosis
Adult Pelizaeus-Merzbacher Disease- Adult Pelizaeus-Merzbacher Disease
- Adult Pelizaeus Merzbacher Disease
- Pelizaeus-Merzbacher Disease, Adult
- Pelizaeus Merzbacher Disease, Adult
Classic Pelizaeus-Merzbacher Disease- Classic Pelizaeus-Merzbacher Disease
- Classic Pelizaeus Merzbacher Disease
- Pelizaeus-Merzbacher Disease, Classic
- Pelizaeus Merzbacher Disease, Classic
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Below are MeSH descriptors whose meaning is more general than "Pelizaeus-Merzbacher Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
- Pelizaeus-Merzbacher Disease [C10.228.140.163.100.362.775]
- Leukoencephalopathies [C10.228.140.695]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
- Pelizaeus-Merzbacher Disease [C10.228.140.695.625.775]
- Demyelinating Diseases [C10.314]
- Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]
- Pelizaeus-Merzbacher Disease [C10.314.400.775]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Pelizaeus-Merzbacher Disease [C16.320.322.906]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362]
- Pelizaeus-Merzbacher Disease [C16.320.565.189.362.775]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362]
- Pelizaeus-Merzbacher Disease [C18.452.132.100.362.775]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362]
- Pelizaeus-Merzbacher Disease [C18.452.648.189.362.775]
Below are MeSH descriptors whose meaning is more specific than "Pelizaeus-Merzbacher Disease".
This graph shows the total number of publications written about "Pelizaeus-Merzbacher Disease" by people in this website by year, and whether "Pelizaeus-Merzbacher Disease" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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2004 | 1 | 0 | 1 |
2011 | 2 | 0 | 2 |
2013 | 0 | 1 | 1 |
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Below are the most recent publications written about "Pelizaeus-Merzbacher Disease" by people in Profiles.
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Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping. Clin Genet. 2014 Mar; 85(3):267-72.
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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet J Rare Dis. 2011 Jun 16; 6:40.
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AIMP1/p43 mutation and PMLD. Am J Hum Genet. 2011 Mar 11; 88(3):391; author reply 393-5.
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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet. 2004 Aug; 75(2):251-60.