Pelizaeus-Merzbacher Disease
"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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2001 | 2 | 0 | 2 |
2002 | 1 | 0 | 1 |
2003 | 1 | 0 | 1 |
2005 | 1 | 0 | 1 |
2006 | 2 | 0 | 2 |
2007 | 1 | 0 | 1 |
2011 | 1 | 0 | 1 |
2012 | 1 | 0 | 1 |
2014 | 1 | 0 | 1 |
2015 | 1 | 0 | 1 |
2017 | 2 | 0 | 2 |
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click here.
Below are the most recent publications written about "Pelizaeus-Merzbacher Disease" by people in Profiles.
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Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet. 2017 05 15; 26(10):1927-1941.
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22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 Apr; 173(4):1066-1070.
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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 Mar; 11(3):e1005050.
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Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy. Pediatr Int. 2014 Oct; 56(5):659-66.
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A new mutation in GJC2 associated with subclinical leukodystrophy. J Neurol. 2014 Oct; 261(10):1929-38.
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Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum. J Clin Neurosci. 2014 Jun; 21(6):1033-9.
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Pelizaeus-Merzbacher disease-associated proteolipid protein 1 inhibits oligodendrocyte precursor cell differentiation via extracellular-signal regulated kinase signaling. Biochem Biophys Res Commun. 2012 Jul 27; 424(2):262-8.
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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. Clin Genet. 2013 Jan; 83(1):66-72.
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Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet. 2012 Jun; 81(6):532-41.
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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007 Dec 28; 131(7):1235-47.