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

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 12 publications over 10 distinct years, with a maximum of 2 publications in 2018 and 2019

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

Year	Major Topic	Minor Topic	Total
1997	1	0	1
1998	1	0	1
2005	1	0	1
2015	1	0	1
2018	1	1	2
2019	1	1	2
2020	0	1	1
2021	1	0	1
2022	1	0	1
2023	1	0	1

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

Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. Nat Commun. 2023 07 03; 14(1):3911.

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Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL). Adv Protein Chem Struct Biol. 2022; 132:89-109.

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Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. EMBO Mol Med. 2021 10 07; 13(10):e13742.

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A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. J Clin Invest. 2020 08 03; 130(8):4118-4132.

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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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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652.

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Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. Mov Disord. 2019 05; 34(5):614-624.

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CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. Nat Cell Biol. 2018 12; 20(12):1370-1377.

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Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report. J Med Case Rep. 2018 Sep 25; 12(1):281.

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Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 2015; 11(6):928-38.

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