 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.
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
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| 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
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| 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
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
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Below are MeSH descriptors whose meaning is more general than "Neuronal Ceroid-Lipofuscinoses".
Below are MeSH descriptors whose meaning is more specific than "Neuronal Ceroid-Lipofuscinoses".
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.
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 |
To return to the timeline, click here.
Below are the most recent publications written about "Neuronal Ceroid-Lipofuscinoses" by people in Profiles.
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Jana M, Dutta D, Poddar J, Pahan K. 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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de Los Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless JW, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. 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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Chakrabarti S, Chandra S, Roy A, Dasarathi S, Kundu M, Pahan K. 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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Kim K, Kleinman HK, Lee HJ, Pahan K. 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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Ghosh A, Rangasamy SB, Modi KK, Pahan K. 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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Ghosh A, Corbett GT, Gonzalez FJ, Pahan K. 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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Souweidane MM, Fraser JF, Arkin LM, Sondhi D, Hackett NR, Kaminsky SM, Heier L, Kosofsky BE, Worgall S, Crystal RG, Kaplitt MG. Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations. J Neurosurg Pediatr. 2010 Aug; 6(2):115-22.
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Arkin LM, Sondhi D, Worgall S, Suh LH, Hackett NR, Kaminsky SM, Hosain SA, Souweidane MM, Kaplitt MG, Dyke JP, Heier LA, Ballon DJ, Shungu DC, Wisniewski KE, Greenwald BM, Hollmann C, Crystal RG. 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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Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P. Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann Neurol. 2000 Feb; 47(2):254-7.
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