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Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)

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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.

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)

Experts

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 08/01/1996 - "Normal superoxide radical production in the neuronal ceroid-lipofuscinoses." 07/01/1986 - "It was recently shown that cerebrospinal fluid from patients with infantile and juvenile neuronal ceroid-lipofuscinosis were less protective against superoxide radical-induced hydroxyl radical formation compared with controls. " 08/28/1982 - "Increased non-protein-bound iron and decreased protection against superoxide-radical damage in cerebrospinal fluid from patients with neuronal ceroid lipofuscinoses." 12/01/1983 - "The neuronal ceroid lipofuscinoses (NCL) are an important group of progressive encephalopathies characterized by accumulation of autofluorescent storage material, which probably arise during the destruction of cells by lipid peroxidation and the action of oxygen radicals such as superoxide (O.2-) and the hydroxyl radical (OH.). "
2.	IronIBA 06/01/1985 - "In the present case, besides the typical lesions of Neuronal Ceroid-Lipofuscinosis, and increased iron reaction at pallidonigral level was detected histochemically. " 06/01/1985 - "A case of Kufs disease with abnormal pallidonigral iron deposit." 08/28/1982 - "Increased non-protein-bound iron and decreased protection against superoxide-radical damage in cerebrospinal fluid from patients with neuronal ceroid lipofuscinoses." 12/01/1983 - "Iron and oxygen radicals in tissue damage: implications for the neuronal ceroid lipofuscinoses." 01/01/1988 - "Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses."
3.	Hydroxyl RadicalIBA 07/01/1986 - "It was recently shown that cerebrospinal fluid from patients with infantile and juvenile neuronal ceroid-lipofuscinosis were less protective against superoxide radical-induced hydroxyl radical formation compared with controls. " 12/01/1983 - "The neuronal ceroid lipofuscinoses (NCL) are an important group of progressive encephalopathies characterized by accumulation of autofluorescent storage material, which probably arise during the destruction of cells by lipid peroxidation and the action of oxygen radicals such as superoxide (O.2-) and the hydroxyl radical (OH.). "
4.	Cysteamine (Mercaptamine)FDA Link 01/01/2013 - "Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate." 08/01/2014 - "We aimed to assess whether combination of oral cysteamine bitartrate and N-acetylcysteine is beneficial for patients with neuronal ceroid lipofuscinosis. " 08/01/2014 - "Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study."
5.	Acetylcysteine (Siran)FDA LinkGeneric 12/01/2012 - "We tested whether N-acetylcysteine (NAC), a well-known antioxidant, improves the pathology of cells from patients with Batten disease. " 08/01/2014 - "We aimed to assess whether combination of oral cysteamine bitartrate and N-acetylcysteine is beneficial for patients with neuronal ceroid lipofuscinosis. " 08/01/2014 - "Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study." 12/01/2012 - "N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease."
6.	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. "
7.	mitochondrial ATPase subunit cIBA 04/01/1997 - "Immunohistochemical and biochemical studies of subunit c of mitochondrial ATP synthase (SCMAS) storage were carried out in neuronal ceroid lipofuscinosis (NCL) and in a series of unrelated inherited and acquired lysosomal disorders. " 02/01/1997 - "Immunohistochemical and ultrastructural studies were undertaken to determine whether accumulation of subunit c of mitochondrial ATP synthase could be detected microscopically in fibroblasts cultured from patients with late infantile and with juvenile Batten disease. " 10/01/2002 - "The staining reactions, autofluorescence and ultrastructure of storage material allowed the diagnosis of neuronal ceroid-lipofuscinosis associated with the accumulation of subunit-c of mitochondrial ATP synthase. " 01/01/2001 - "Potential interaction of CLN3 with subunit c of mitochondrial ATP synthase, the major component of the storage material that accumulates in Batten disease patients, was also tested. " 06/01/2000 - "In addition to characteristic electron microscopic findings, enlarged neurons showed strong immunoreactivity against subunit c of mitochondrial ATP synthase which has been reported previously in only a few adult cases of neuronal ceroid-lipofuscinosis. "
8.	lipopigmentsIBA 01/01/1989 - "Lectin histochemical study of lipopigments with special regard to neuronal ceroid-lipofuscinosis. " 01/01/1983 - "The study reports characteristics of the autofluorescence emission spectra from abnormal accumulations of intraneuronal lipopigment in a case of adult-onset neuronal ceroidosis (Kufs' disease). " 01/01/1981 - "Studies in neuronal ceroid-lipofuscinosis: heterogeneous nature of neuronal autofluorescent lipopigments." 10/01/2015 - "The neuronal ceroid lipofuscinoses (NCL) currently encompass fourteen genetically different forms, CLN1 to CLN14, but are all morphologically marked by loss of nerve cells, particularly in the cerebral and cerebellar cortices, and the cerebral and extracerebral formation of lipopigments. " 06/15/2012 - "Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death. "
9.	AntibodiesIBA 04/25/2000 - "To establish a new method for rapid diagnosis of late infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) using specific polyclonal antibodies against the CLN2 gene product. " 11/27/1998 - "We raised polyclonal antibodies against a gene product responsible for late infantile neuronal ceroid lipofuscinosis (CLN2). " 07/01/1988 - "These antibodies also reacted with Pick bodies, and with the neurofibrillary tangles of Kufs' disease and Guam Parkinsonism-dementia. " 11/30/2004 - "This result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS), epilepsy, cerebellar ataxia and Batten disease. " 04/01/1993 - "Pathological studies of mice homozygous for the motor neuron degeneration (Mnd) mutation show abnormalities similar to those of the human neuronal ceroid lipofuscinoses: sudanophilic, autofluorescent intraneuronal inclusions that are immunoreactive with antibodies to subunit c of mitochondrial ATP synthase. "
10.	Retinaldehyde (Retinal)IBA 03/01/2015 - "Ophthalmologic studies of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) have focused mainly on retinal involvement, and so far no anterior segment abnormalities have been described. " 03/01/1990 - "An ultrastructural study on retinal neural and pigment epithelial cells in ovine neuronal ceroid-lipofuscinosis." 08/01/2015 - "The eyes and vision of nine heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with classical CLN3 mutations were examined using the following methods: clinical examination, visual acuity, ophthalmoscopy, optical coherence tomography (macular thickness and peripapillary retinal nerve fibre layer measurement [RNFL]), fundus autofluorescence measurement, infrared imaging, and full-field and multifocal electroretinogram. " 01/01/2014 - "Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography." 12/01/2009 - "To measure fundus autofluorescence (FAF) in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis (NCL) and document fundus abnormalities in NCL patients using standard retinal photography and confocal infra-red (IR) imaging. "

Therapies and Procedures

1.	Enzyme Replacement Therapy 11/01/2014 - "Using a canine model of classical late-infantile neuronal ceroid lipofuscinosis (CLN2 disease), a study was conducted to evaluate the potential pharmacological activity of recombinant human tripeptidyl peptidase-1 (rhTPP1) enzyme replacement therapy administered directly to the cerebrospinal fluid (CSF). " 09/01/2015 - "Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis." 08/01/2014 - "Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis." 12/01/2011 - "Here, we explored enzyme replacement therapy in a knock-out mouse model of congenital neuronal ceroid lipofuscinosis (NCL), the most severe of the NCLs in humans. " 04/01/2010 - "Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis."
2.	Transplants (Transplant) 06/05/1995 - "Bone marrow transplant may have no effect on material already stored but might prevent further build-up and halt the onset of the clinical symptoms although very recent studies on early (fetal) transplants in sheep with a form of Batten disease have shown no benefit." 06/05/1995 - "Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease."
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) 06/01/2012 - "Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis." 12/01/2005 - "Allogenic bone marrow transplantation for late-infantile neuronal ceroid lipofuscinosis." 02/01/1997 - "Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease." 06/05/1995 - "Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis). "
5.	Anesthesia 03/01/2006 - "Anesthesia management in neuronal ceroid lipofuscinoses." 10/01/2004 - "Anesthesia in a child with Batten disease." 11/01/1990 - "Anesthesia for a patient with Kufs' disease." 08/01/2009 - "Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia."