Hereditary Central Nervous System Demyelinating Diseases
"Hereditary Central Nervous System Demyelinating Diseases" 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.
Inherited conditions characterized by a loss of MYELIN in the central nervous system.
MeSH Number(s)
C10.228.140.163.100.362
C10.228.140.695.625
C10.228.518.625
C10.314.400
C10.574.500.494
C16.320.400.367
C16.320.565.189.362
C18.452.132.100.362
C18.452.648.189.362
Concept/Terms
Hereditary Central Nervous System Demyelinating Diseases- Hereditary Central Nervous System Demyelinating Diseases
- Central Nervous System Demyelinating Hereditary Diseases
- Hereditary Demyelinating Diseases, Central Nervous System
- Demyelinating Central Nervous System Diseases, Hereditary
- Demyelinating Diseases, Central Nervous System, Hereditary
- Central Nervous System Demyelinating Diseases, Hereditary
- Central Nervous System Hereditary Demyelinating Diseases
Below are MeSH descriptors whose meaning is more general than "Hereditary Central Nervous System Demyelinating Diseases".
- 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]
- Leukoencephalopathies [C10.228.140.695]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
- Leukoencephalopathies [C10.228.518]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.518.625]
- Demyelinating Diseases [C10.314]
- Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Hereditary Central Nervous System Demyelinating Diseases [C10.574.500.494]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Hereditary Central Nervous System Demyelinating Diseases [C16.320.400.367]
- 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]
- 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]
- 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]
Below are MeSH descriptors whose meaning is more specific than "Hereditary Central Nervous System Demyelinating Diseases".
This graph shows the total number of publications written about "Hereditary Central Nervous System Demyelinating Diseases" by people in Harvard Catalyst Profiles by year, and whether "Hereditary Central Nervous System Demyelinating Diseases" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 0 | 1 | 1 |
| 2009 | 1 | 1 | 2 |
| 2013 | 1 | 0 | 1 |
| 2014 | 3 | 0 | 3 |
| 2015 | 3 | 0 | 3 |
| 2016 | 2 | 0 | 2 |
| 2017 | 2 | 0 | 2 |
| 2018 | 2 | 1 | 3 |
| 2020 | 1 | 1 | 2 |
| 2021 | 3 | 0 | 3 |
Below are the most recent publications written about "Hereditary Central Nervous System Demyelinating Diseases" by people in Profiles.
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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021 10 22; 144(9):2659-2669.
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Adult onset POLR3A leukodystrophy presenting with parkinsonism treated with pallidal deep brain stimulation. Parkinsonism Relat Disord. 2021 04; 85:23-25.
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 01 23; 106(2):e660-e674.
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Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies. J Child Neurol. 2021 01; 36(1):65-78.
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
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The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Mol Brain. 2019 06 20; 12(1):59.
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Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200. J Biol Chem. 2019 05 03; 294(18):7445-7459.
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TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia. Brain Pathol. 2018 11; 28(6):806-821.
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Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up. Clin Neurol Neurosurg. 2018 08; 171:190-193.
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5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126.