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; Batten-Mayou Disease; Batten-Spielmeyer-Vogt Disease; Ceroid Storage Disease; Infantile Neuronal Ceroid Lipofuscinosis; Juvenile Cerebroretinal Degeneration; Juvenile Neuronal Ceroid Lipofuscinosis; Late-Infantile Neuronal Ceroid Lipofuscinosis; Lipofuscin Storage Disease; Neuronal Ceroid Lipofuscinosis, Adult; Neuronal Ceroid Lipofuscinosis, Infantile; Neuronal Ceroid Lipofuscinosis, Juvenile; Neuronal Ceroid Lipofuscinosis, Late-Infantile; Neuronal Ceroid-Lipofuscinosis; Batten Mayou Disease; Batten Spielmeyer Vogt Disease; Cerebroretinal Degeneration, Juvenile; Cerebroretinal Degenerations, Juvenile; Ceroid Storage Diseases; Disease, Ceroid Storage; Disease, Lipofuscin Storage; Diseases, Ceroid Storage; Diseases, Lipofuscin Storage; Juvenile Cerebroretinal Degenerations; Late Infantile Neuronal Ceroid Lipofuscinosis; Lipofuscin Storage Diseases; Neuronal Ceroid Lipofuscinoses; Neuronal Ceroid Lipofuscinosis, Late Infantile; Santavuori Haltia Disease; Storage Disease, Ceroid; Storage Disease, Lipofuscin; Storage Diseases, Ceroid; Storage Diseases, Lipofuscin; Ceroid-Lipofuscinosis, Neuronal; Jansky-Bielschowsky Disease; Santavuori-Haltia Disease; Spielmeyer-Vogt Disease
Networked: 677 relevant articles (4 outcomes, 43 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
2. Neurodegenerative Diseases (Neurodegenerative Disease)
3. Parkinson Disease (Parkinson's Disease)
4. Mental Retardation (Idiocy)
5. Dementia (Dementias)


1. Pearce, David A: 34 articles (12/2014 - 01/2002)
2. Cooper, Jonathan D: 21 articles (09/2015 - 06/2002)
3. Lobel, Peter: 15 articles (03/2014 - 10/2004)
4. Braulke, Thomas: 13 articles (01/2015 - 01/2003)
5. Sleat, David E: 11 articles (03/2014 - 10/2004)
6. Jalanko, Anu: 11 articles (11/2013 - 04/2002)
7. Mole, Sara E: 11 articles (04/2013 - 02/2002)
8. Katz, Martin L: 10 articles (11/2015 - 01/2005)
9. Tyynelä, Jaana: 10 articles (11/2013 - 01/2003)
10. Davidson, Beverly L: 9 articles (11/2015 - 10/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neuronal Ceroid-Lipofuscinoses:
1. Superoxides (Superoxide)IBA
2. IronIBA
3. Hydroxyl RadicalIBA
4. Cysteamine (Mercaptamine)FDA Link
5. Acetylcysteine (Siran)FDA LinkGeneric
6. Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
7. mitochondrial ATPase subunit cIBA
8. lipopigmentsIBA
9. AntibodiesIBA
10. Retinaldehyde (Retinal)IBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Transplants (Transplant)
3. Therapeutics
05/01/2012 - "Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics."
12/28/2014 - "To determine whether the degree of disruption that we observed with this method was sufficient for delivery of nanoscale therapeutics, we performed IA injections of an adeno-associated viral vector containing the CLN2 gene (AAVrh.10CLN2), which is mutated in the lysosomal storage disorder Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL). "
12/01/2014 - "As current and future therapeutics increase the life-span of those suffering from diseases like neuronal ceroid lipofuscinosis, it remains a distinct possibility that many more lysosomal disorders that primarily manifest as infant and juvenile neurodegenerative diseases may also include renal disease phenotypes. "
09/01/2013 - "The 2012 Neurobiology of Disease in Children Symposium, held in conjunction with the 41st Annual Meeting of the Child Neurology Society, aimed to (1) provide a survey of the currently accepted forms of neuronal ceroid lipofuscinoses and their associated genetic mutations and clinical phenotypes; (2) highlight the specific pathology of Batten disease; (3) discuss the contemporary understanding of the molecular mechanisms that lead to pathology; and (4) introduce strategies that are being translated from bench to bedside as potential therapeutics. "
07/01/2001 - "Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal recessive childhood disease caused by mutations in the CLN2 gene, which encodes the lysosomal enzyme tripeptidyl peptidase I. As a step towards understanding the protein and developing therapeutics for the disease, we have produced and characterized recombinant human CLN2 (ceroid lipofuscinosis, neuronal 2) protein from Chinese-hamster ovary cells engineered to secrete high levels of the enzyme. "
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Anesthesia