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Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)

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.
Also Known As:
Neuronal Ceroid Lipofuscinosis; Batten Disease; Lipofuscinosis, Neuronal Ceroid; Jansky Bielschowsky Disease; Spielmeyer Vogt Disease; Ceroid Lipofuscinosis, Neuronal; Kufs Disease; Adult Neuronal Ceroid Lipofuscinosis; Amaurotic Idiocy, Adult Type; Batten-Mayou Disease; Batten-Spielmeyer-Vogt Disease; CLN3-Related Neuronal Ceroid-Lipofuscinosis; CLN4A; CLN4B; Ceroid Lipofuscinosis, Neuronal 3, Juvenile; Ceroid Lipofuscinosis, Neuronal 4; Ceroid Lipofuscinosis, Neuronal, 3; Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive; Ceroid Lipofuscinosis, Neuronal, Parry Type; Ceroid Storage Disease; Infantile Neuronal Ceroid Lipofuscinosis; Juvenile Batten Disease; Juvenile Cerebroretinal Degeneration; Juvenile Neuronal Ceroid Lipofuscinosis; Kuf's Disease; Kufs Disease Autosomal Recessive; Kufs Disease, Autosomal Dominant; Kufs Disease, Autosomal Recessive; Kufs Type Neuronal Ceroid Lipofuscinosis; Late-Infantile Neuronal Ceroid Lipofuscinosis; Lipofuscin Storage Disease; Neuronal Ceroid Lipofuscinosis Juvenile Type; Neuronal Ceroid Lipofuscinosis, Adult; Neuronal Ceroid Lipofuscinosis, Adult Type; Neuronal Ceroid Lipofuscinosis, Infantile; Neuronal Ceroid Lipofuscinosis, Juvenile; Neuronal Ceroid Lipofuscinosis, Late Infantile; Neuronal Ceroid Lipofuscinosis, Late-Infantile; Neuronal Ceroid-Lipofuscinosis; Spielmeyer-Sjogren Disease; Vogt Spielmeyer Disease; Vogt-Spielmeyer Disease; Batten Disease, Juvenile; Batten Diseases, Juvenile; Batten Mayou Disease; Batten Spielmeyer Vogt Disease; CLN3 Related Neuronal Ceroid Lipofuscinosis; CLN3-Related Neuronal Ceroid-Lipofuscinoses; CLN4As; Cerebroretinal Degeneration, Juvenile; Cerebroretinal Degenerations, Juvenile; Ceroid Storage Diseases; Ceroid-Lipofuscinosis, CLN3-Related Neuronal; Disease, Ceroid Storage; Disease, Juvenile Batten; Disease, Kuf's; Disease, Lipofuscin Storage; Disease, Spielmeyer-Sjogren; Disease, Vogt Spielmeyer; Disease, Vogt-Spielmeyer; Juvenile Batten Diseases; Juvenile Cerebroretinal Degenerations; Kuf Disease; Lipofuscin Storage Diseases; Neuronal Ceroid Lipofuscinoses; Neuronal Ceroid-Lipofuscinoses, CLN3-Related; Neuronal Ceroid-Lipofuscinosis, CLN3-Related; Santavuori Haltia Disease; Spielmeyer Disease, Vogt; Spielmeyer Sjogren Disease; Storage Disease, Ceroid; Storage Disease, Lipofuscin; Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant; Ceroid-Lipofuscinosis, Neuronal; Jansky-Bielschowsky Disease; Santavuori-Haltia Disease; Spielmeyer-Vogt Disease
Networked: 1138 relevant articles (16 outcomes, 62 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neurodegenerative Diseases (Neurodegenerative Disease)
2. Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
3. Retinal Diseases
4. Parkinson Disease (Parkinson's Disease)
5. Alzheimer Disease (Alzheimer's Disease)

Experts

1. Pearce, David A: 51 articles (01/2022 - 01/2002)
2. Cooper, Jonathan D: 33 articles (01/2019 - 06/2002)
3. Mole, Sara E: 25 articles (01/2022 - 02/2002)
4. Lobel, Peter: 22 articles (01/2020 - 10/2004)
5. Jalanko, Anu: 20 articles (04/2014 - 04/2002)
6. Katz, Martin L: 19 articles (07/2022 - 01/2005)
7. Schulz, Angela: 18 articles (10/2022 - 05/2009)
8. Storch, Stephan: 18 articles (01/2022 - 01/2003)
9. Sleat, David E: 18 articles (01/2020 - 10/2004)
10. Mukherjee, Anil B: 17 articles (01/2021 - 05/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neuronal Ceroid-Lipofuscinoses:
1. Antisense OligonucleotidesIBA
09/12/2023 - "Behavioral and pathological analyses of these mice demonstrate a less severe phenotype compared with the CLN3 disease mouse model, providing evidence that antisense oligonucleotide-induced exon skipping can have therapeutic efficacy in treating CLN3 Batten disease. "
01/01/2020 - "Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease."
01/01/2022 - "The first individualized therapy was administered in the United States just 2 years ago, when milasen, a therapeutic adapted from a Food and Drug Administration (FDA)-approved antisense oligonucleotide technology, was developed for a young girl with an extremely rare genetic mutation associated with Batten disease. "
09/12/2023 - "We have recently reported on an exon-skipping antisense oligonucleotide that has a therapeutic effect in a mouse model of CLN3 Batten disease, a fatal pediatric lysosomal storage disease. "
01/01/2020 - ": 4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive."
2. Superoxides (Superoxide)IBA
3. Proteins (Proteins, Gene)FDA Link
4. LipidsIBA
5. cerliponase alfaIBA
6. Lysergic Acid Diethylamide (LSD)IBA
7. IronIBA
8. Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
06/05/2015 - "To gain an improved understanding of the pathways regulating defective autophagy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenerative disease of childhood, we developed and piloted a GFP-microtubule-associated protein 1 light chain 3 (GFP-LC3) screening assay to identify, in an unbiased fashion, genotype-sensitive small molecule autophagy modifiers, employing a JNCL neuronal cell model bearing the most common disease mutation in CLN3. "
01/01/2022 - ": Aβ, amyloid-beta; AD, Alzheimer disease; APP, amyloid precursor protein; ATP5MC, ATP synthase membrane subunit c; DQ-BSA, dye-quenched bovine serum albumin; ER, endoplasmic reticulum; GFP, green fluorescent protein; ICC, immunocytochemistry; ICD, intracellular domain; JNCL, juvenile neuronal ceroid lipofuscinosis; KO, knockout; LC3, microtubule associated protein 1 light chain 3; NCL, neuronal ceroid lipofuscinoses; PSEN, presenilin; PSENEN/PEN2: presenilin enhancer, gamma-secretase subunit; TAP, tandem affinity purification; TEV, tobacco etch virus; TF, transferrin; WB, Western blot; WT, wild type."
01/01/2022 - ": aa: amino acid; SNCA/α-synuclein: synuclein alpha; APP: amyloid beta precursor protein; BBB: blood brain barrier; BF: basal forebrain; CBB: Coomassie Brilliant Blue; CLN: neuronal ceroid lipofuscinosis; CNL10: neuronal ceroid lipofuscinosis type 10; Corr.: corrected; CTSD: cathepsin D; CTSB: cathepsin B; DA: dopaminergic; DA-iPSn: induced pluripotent stem cell-derived dopaminergic neurons; dox: doxycycline; ERT: enzyme replacement therapy; Fx: fornix, GBA/β-glucocerebrosidase: glucosylceramidase beta; h: hour; HC: hippocampus; HT: hypothalamus; i.c.: intracranially; IF: immunofluorescence; iPSC: induced pluripotent stem cell; KO: knockout; LAMP1: lysosomal associated membrane protein 1; LSDs: lysosomal storage disorders; MAPT: microtubule associated protein tau; M6P: mannose-6-phosphate; M6PR: mannose-6-phosphate receptor; MB: midbrain; mCTSD: mature form of CTSD; neurofil.: neurofilament; PD: Parkinson disease; proCTSD: proform of CTSD; PRNP: prion protein; RFU: relative fluorescence units; rHsCTSD: recombinant human proCTSD; SAPC: Saposin C; SIM: structured illumination microscopy; T-insol: Triton-insoluble; T-sol: Triton-soluble; TEM: transmission electron microscopy, TH: tyrosine hydroxylase; Thal: thalamus."
01/01/2020 - ": AIF1/IBA1: allograft inflammatory factor 1; BBB: blood brain barrier; CNS: central nervous system; CTSB: cathepsin B; CTSD: cathepsin D; CTSL: cathepsin L; ERT: enzyme replacement therapy; GFAP: glial fibrillary acidic protein; INL: inner nuclear layer; LAMP1: lysosomal-associated membrane protein 1; LAMP2: lysosomal-associated membrane protein 2; MAP1LC3/LC3: microtubule-associated protein 1 light chain 3; LDL: low-density lipoprotein; LRP1: low density lipoprotein receptor-related protein 1; LSD: lysosomal storage disorder; MEFs: mouse embryonic fibroblasts; M6P: mannose 6-phosphate; mCTSD: mature CTSD; NCL: neuronal ceroid lipofuscinosis; ONL: outer nuclear layer; PB: phosphate buffer; proCTSD: pro-cathepsin D; LRPAP1: low density lipoprotein receptor-related protein associated protein 1; rhCTSD: human recombinant CTSD; SAPC: saposin C; SAPD: saposin D; ATP5G1: ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9); SQSTM1/p62: sequestosome 1; TPP1: tripeptidyl peptidase I."
9. Gemfibrozil (Lopid)FDA LinkGeneric
10. Hydroxyl RadicalIBA

Therapies and Procedures

1. Therapeutics
2. Enzyme Replacement Therapy
3. Hematopoietic Stem Cell Transplantation
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Anesthesia