Leukodystrophy, Globoid Cell
"Leukodystrophy, Globoid Cell" 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.
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
MeSH Number(s)
C10.228.140.163.100.362.500
C10.228.140.163.100.435.825.590
C10.228.140.695.625.500
C10.228.518.625.500
C10.314.400.500
C16.320.565.189.362.500
C16.320.565.189.435.825.590
C16.320.565.398.641.803.585
C16.320.565.595.554.825.590
C18.452.132.100.362.500
C18.452.132.100.435.825.590
C18.452.584.687.803.585
C18.452.648.189.362.500
C18.452.648.189.435.825.590
C18.452.648.398.641.803.585
C18.452.648.595.554.825.590
Concept/Terms
Leukodystrophy, Globoid Cell- Leukodystrophy, Globoid Cell
- Cell Leukodystrophies, Globoid
- Cell Leukodystrophy, Globoid
- Globoid Cell Leukodystrophies
- Leukodystrophies, Globoid Cell
- Galactosylceramidase Deficiency Disease
- Deficiency Disease, Galactosylceramidase
- Deficiency Diseases, Galactosylceramidase
- Disease, Galactosylceramidase Deficiency
- Diseases, Galactosylceramidase Deficiency
- Galactosylceramidase Deficiency Diseases
- Galactosylceramide-beta-Galactosidase Deficiency Disease
- Deficiency Disease, Galactosylceramide-beta-Galactosidase
- Deficiency Diseases, Galactosylceramide-beta-Galactosidase
- Disease, Galactosylceramide-beta-Galactosidase Deficiency
- Diseases, Galactosylceramide-beta-Galactosidase Deficiency
- Galactosylceramide beta Galactosidase Deficiency Disease
- Galactosylceramide-beta-Galactosidase Deficiency Diseases
- Globoid Body Sclerosis, Diffuse
- Krabbe's Leukodystrophy
- Krabbes Leukodystrophy
- Leukodystrophy, Krabbe's
- Globoid Cell Leukoencephalopathy
- Cell Leukoencephalopathies, Globoid
- Cell Leukoencephalopathy, Globoid
- Globoid Cell Leukoencephalopathies
- Leukoencephalopathies, Globoid Cell
- Leukoencephalopathy, Globoid Cell
- Globoid Leukodystrophy
- Globoid Leukodystrophies
- Leukodystrophies, Globoid
- Leukodystrophy, Globoid
- Krabbe Disease
- Krabbe Leukodystrophy
- Leukodystrophy, Krabbe
- Krabbe's Disease
- Krabbes Disease
- Diffuse Globoid Body Sclerosis
- Globoid Cell Leukodystrophy
Early-Onset Globoid Cell Leukodystrophy- Early-Onset Globoid Cell Leukodystrophy
- Early Onset Globoid Cell Leukodystrophy
- Leukodystrophy, Globoid Cell, Infantile
- Leukodystrophy, Globoid Cell, Classic
- Leukodystrophy, Globoid Cell, Early-Onset
- Classic Globoid Cell Leukodystrophy
- Infantile Globoid Cell Leukodystrophy
Below are MeSH descriptors whose meaning is more general than "Leukodystrophy, Globoid Cell".
- 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]
- Leukodystrophy, Globoid Cell [C10.228.140.163.100.362.500]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Leukodystrophy, Globoid Cell [C10.228.140.163.100.435.825.590]
- Leukoencephalopathies [C10.228.140.695]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
- Leukodystrophy, Globoid Cell [C10.228.140.695.625.500]
- Leukoencephalopathies [C10.228.518]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.518.625]
- Leukodystrophy, Globoid Cell [C10.228.518.625.500]
- Demyelinating Diseases [C10.314]
- Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]
- Leukodystrophy, Globoid Cell [C10.314.400.500]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- 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]
- Leukodystrophy, Globoid Cell [C16.320.565.189.362.500]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Leukodystrophy, Globoid Cell [C16.320.565.189.435.825.590]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Leukodystrophy, Globoid Cell [C16.320.565.398.641.803.585]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Leukodystrophy, Globoid Cell [C16.320.565.595.554.825.590]
- 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]
- Leukodystrophy, Globoid Cell [C18.452.132.100.362.500]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Leukodystrophy, Globoid Cell [C18.452.132.100.435.825.590]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Leukodystrophy, Globoid Cell [C18.452.584.687.803.585]
- 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]
- Leukodystrophy, Globoid Cell [C18.452.648.189.362.500]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Leukodystrophy, Globoid Cell [C18.452.648.189.435.825.590]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Leukodystrophy, Globoid Cell [C18.452.648.398.641.803.585]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Leukodystrophy, Globoid Cell [C18.452.648.595.554.825.590]
Below are MeSH descriptors whose meaning is more specific than "Leukodystrophy, Globoid Cell".
This graph shows the total number of publications written about "Leukodystrophy, Globoid Cell" by people in Harvard Catalyst Profiles by year, and whether "Leukodystrophy, Globoid Cell" 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 |
|---|
| 1994 | 1 | 0 | 1 |
| 1996 | 1 | 0 | 1 |
| 2001 | 1 | 1 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2010 | 3 | 1 | 4 |
| 2011 | 2 | 0 | 2 |
| 2012 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 2 | 0 | 2 |
| 2019 | 4 | 0 | 4 |
| 2020 | 1 | 1 | 2 |
| 2021 | 1 | 0 | 1 |
Below are the most recent publications written about "Leukodystrophy, Globoid Cell" by people in Profiles.
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Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes. Stem Cell Reports. 2021 06 08; 16(6):1478-1495.
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Cell-autonomous expression of the acid hydrolase galactocerebrosidase. Proc Natl Acad Sci U S A. 2020 04 21; 117(16):9032-9041.
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Lead Optimization of Benzoxazolone Carboxamides as Orally Bioavailable and CNS Penetrant Acid Ceramidase Inhibitors. J Med Chem. 2020 04 09; 63(7):3634-3664.
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Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. Proc Natl Acad Sci U S A. 2019 10 01; 116(40):20097-20103.
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Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network. Biol Blood Marrow Transplant. 2019 12; 25(12):e363-e374.
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Clinical Reasoning: Pes cavus and neuropathy: Think beyond Charcot-Marie-Tooth disease. Neurology. 2019 08 20; 93(8):e823-e826.
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An Engineered Galactosylceramidase Construct Improves AAV Gene Therapy for Krabbe Disease in Twitcher Mice. Hum Gene Ther. 2019 09; 30(9):1039-1051.
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a-Synuclein interacts directly but reversibly with psychosine: implications for a-synucleinopathies. Sci Rep. 2018 08 20; 8(1):12462.
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AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease). Hum Gene Ther. 2018 07; 29(7):785-801.
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Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe's Disease after Global Gene Therapy. Mol Ther. 2018 03 07; 26(3):874-889.