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 6 publications over 6 distinct years, with a maximum of 1 publications in 1999 and 2009 and 2016 and 2019 and 2021 and 2022

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

Year	Major Topic	Total
1999	1	1
2009	1	1
2016	1	1
2019	1	1
2021	1	1
2022	1	1

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

Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration. Sci Adv. 2022 04 15; 8(15):eabj8633.

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Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression. J Neuroinflammation. 2021 Nov 08; 18(1):262.

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Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model. ASN Neuro. 2019 Jan-Dec; 11:1759091419843393.

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BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE. Retin Cases Brief Rep. 2016; 10(3):211-3.

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Neuronal ceroid lipofuscinosis with DNAJC5/CSPa mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathol. 2016 Apr; 131(4):621-37.

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Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease. Biochem Biophys Res Commun. 2010 Apr 23; 395(1):66-9.

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Dystonic storm due to Batten's disease treated with pallidotomy and deep brain stimulation. Mov Disord. 2009 May 15; 24(7):1048-53.

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Expression of the receptor for advanced glycation end products in oligodendrocytes in response to oxidative stress. J Neurosci Res. 2008 Aug 15; 86(11):2414-22.

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A novel role of the Batten disease gene CLN3: association with BMP synthesis. Biochem Biophys Res Commun. 2007 Jun 22; 358(1):111-6.

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Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. Biochim Biophys Acta. 2006 Oct; 1762(10):945-53.

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