Neuronal Ceroid-Lipofuscinoses

"Neuronal Ceroid-Lipofuscinoses" 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.

MeSH information

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A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.

Descriptor ID	D009472
MeSH Number(s)	C10.574.500.550 C16.320.400.600 C16.320.565.398.641.509 C18.452.584.687.509 C18.452.648.398.641.509
Concept/Terms	Neuronal Ceroid-Lipofuscinoses Neuronal Ceroid-Lipofuscinoses Neuronal Ceroid Lipofuscinoses Ceroid-Lipofuscinosis, Neuronal Ceroid Lipofuscinosis, Neuronal Neuronal Ceroid-Lipofuscinosis Lipofuscinosis, Neuronal Ceroid Neuronal Ceroid Lipofuscinosis Ceroid Storage Disease Ceroid Storage Diseases Disease, Ceroid Storage Diseases, Ceroid Storage Storage Disease, Ceroid Storage Diseases, Ceroid Lipofuscin Storage Disease Disease, Lipofuscin Storage Diseases, Lipofuscin Storage Lipofuscin Storage Diseases Storage Disease, Lipofuscin Storage Diseases, Lipofuscin Late-Infantile Neuronal Ceroid Lipofuscinosis Late-Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Late Infantile Neuronal Ceroid Lipofuscinosis, Late-Infantile Jansky-Bielschowsky Disease Jansky Bielschowsky Disease Infantile Neuronal Ceroid Lipofuscinosis Infantile Neuronal Ceroid Lipofuscinosis Santavuori-Haltia Disease Santavuori Haltia Disease Neuronal Ceroid Lipofuscinosis, Infantile Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Neuronal Ceroid Lipofuscinosis Batten-Mayou Disease Batten Mayou Disease Batten-Spielmeyer-Vogt Disease Batten Spielmeyer Vogt Disease Ceroid Lipofuscinosis, Neuronal 3, Juvenile Ceroid Lipofuscinosis, Neuronal, 3 CLN3-Related Neuronal Ceroid-Lipofuscinosis CLN3 Related Neuronal Ceroid Lipofuscinosis CLN3-Related Neuronal Ceroid-Lipofuscinoses Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Neuronal Neuronal Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Juvenile Batten Disease Batten Disease, Juvenile Batten Diseases, Juvenile Disease, Juvenile Batten Diseases, Juvenile Batten Juvenile Batten Diseases Juvenile Cerebroretinal Degeneration Cerebroretinal Degeneration, Juvenile Cerebroretinal Degenerations, Juvenile Juvenile Cerebroretinal Degenerations Neuronal Ceroid Lipofuscinosis Juvenile Type Neuronal Ceroid Lipofuscinosis, Juvenile Spielmeyer-Sjogren Disease Disease, Spielmeyer-Sjogren Spielmeyer Sjogren Disease Spielmeyer-Vogt Disease Spielmeyer Vogt Disease Vogt Spielmeyer Disease Disease, Vogt Spielmeyer Spielmeyer Disease, Vogt Vogt-Spielmeyer Disease Disease, Vogt-Spielmeyer Batten Disease Adult Neuronal Ceroid Lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal 4 Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive CLN4A CLN4As Neuronal Ceroid Lipofuscinosis, Adult Type Kufs Disease Kufs Disease Autosomal Recessive Kufs Disease, Autosomal Recessive Kufs Type Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Amaurotic Idiocy, Adult Type Kuf's Disease Disease, Kuf's Kuf Disease Ceroid Lipofuscinosis, Neuronal, Parry Type Ceroid Lipofuscinosis, Neuronal, Parry Type CLN4B Kufs Disease, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant

Below are MeSH descriptors whose meaning is more general than "Neuronal Ceroid-Lipofuscinoses".

Diseases [C]
Nervous System Diseases [C10]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Neuronal Ceroid-Lipofuscinoses [C10.574.500.550]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Neuronal Ceroid-Lipofuscinoses [C16.320.400.600]
Metabolism, Inborn Errors [C16.320.565]
Lipid Metabolism, Inborn Errors [C16.320.565.398]
Lipidoses [C16.320.565.398.641]
Neuronal Ceroid-Lipofuscinoses [C16.320.565.398.641.509]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Lipid Metabolism Disorders [C18.452.584]
Lipidoses [C18.452.584.687]
Neuronal Ceroid-Lipofuscinoses [C18.452.584.687.509]
Metabolism, Inborn Errors [C18.452.648]
Lipid Metabolism, Inborn Errors [C18.452.648.398]
Lipidoses [C18.452.648.398.641]
Neuronal Ceroid-Lipofuscinoses [C18.452.648.398.641.509]

Below are MeSH descriptors whose meaning is related to "Neuronal Ceroid-Lipofuscinoses".

Below are MeSH descriptors whose meaning is more specific than "Neuronal Ceroid-Lipofuscinoses".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Neuronal Ceroid-Lipofuscinoses" by people in this website by year, and whether "Neuronal Ceroid-Lipofuscinoses" was a major or minor topic of these publications.

Bar chart showing 7 publications over 6 distinct years, with a maximum of 2 publications in 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2000	1	0	1
2012	1	0	1
2017	2	0	2
2019	0	1	1
2020	1	0	1
2023	1	0	1

Below are the most recent publications written about "Neuronal Ceroid-Lipofuscinoses" by people in Profiles.

Activation of PPARa Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. J Neurosci. 2023 03 08; 43(10):1814-1829.

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Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020 09; 110:64-70.

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Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARa: Implications for late-infantile Batten disease therapy. Neurobiol Dis. 2019 07; 127:362-373.

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Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders. Orphanet J Rare Dis. 2017 06 17; 12(1):113.

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Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. J Neurochem. 2017 05; 141(3):423-435.

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Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor a: implications for late infantile Batten disease therapy. J Biol Chem. 2012 Nov 09; 287(46):38922-35.

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Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations. J Neurosurg Pediatr. 2010 Aug; 6(2):115-22.

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Confronting the issues of therapeutic misconception, enrollment decisions, and personal motives in genetic medicine-based clinical research studies for fatal disorders. Hum Gene Ther. 2005 Sep; 16(9):1028-36.

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Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann Neurol. 2000 Feb; 47(2):254-7.

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