"Lafora 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 form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110).
Descriptor ID |
D020192
|
MeSH Number(s) |
C10.228.140.490.375.130.650.500 C10.228.140.490.493.063.650.500 C10.574.500.529 C16.320.400.480
|
Concept/Terms |
Lafora Disease- Lafora Disease
- Progressive Myoclonic Epilepsy, Lafora Type
- Lafora Body Disease
- Lafora Progressive Myoclonic Epilepsy
- Lafora Type Progressive Myoclonic Epilepsy
- Epilepsy, Progressive Myoclonic 2A
- Lafora Body Disorder
- Myoclonic Epilepsy of Lafora
- Lafora Myoclonic Epilepsy
- Epilepsy Progressive Myoclonic 2
- Lafora Progressive Myoclonus Epilepsy
- Progressive Myoclonic Epilepsy Type 2
- Progressive Myoclonus Epilepsy, Lafora Type
- Epilepsy, Progressive Myoclonic, Lafora
- Progressive Myoclonic Epilepsy, Lafora
|
Below are MeSH descriptors whose meaning is more general than "Lafora Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Epilepsy [C10.228.140.490]
- Epilepsy, Generalized [C10.228.140.490.375]
- Epilepsies, Myoclonic [C10.228.140.490.375.130]
- Myoclonic Epilepsies, Progressive [C10.228.140.490.375.130.650]
- Lafora Disease [C10.228.140.490.375.130.650.500]
- Epileptic Syndromes [C10.228.140.490.493]
- Epilepsies, Myoclonic [C10.228.140.490.493.063]
- Myoclonic Epilepsies, Progressive [C10.228.140.490.493.063.650]
- Lafora Disease [C10.228.140.490.493.063.650.500]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Lafora Disease [C10.574.500.529]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Lafora Disease [C16.320.400.480]
Below are MeSH descriptors whose meaning is more specific than "Lafora Disease".
This graph shows the total number of publications written about "Lafora Disease" by people in this website by year, and whether "Lafora Disease" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Lafora Disease" by people in Profiles.
-
Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior. J Comp Neurol. 2024 07; 532(7):e25660.
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Malin regulates Wnt signaling pathway through degradation of dishevelled2. J Biol Chem. 2012 Feb 24; 287(9):6830-9.