Ceroid
Neuronal Ceroid-Lipofuscinoses
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.
Serine Proteases
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
Aminopeptidases
Lipofuscin
Lipidoses
Lysosomal Storage Diseases, Nervous System
Lysosomes
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Molecular Chaperones
Cathepsin F
Endopeptidases
Dolichol
Cathepsin D
Dog Diseases
Hermanski-Pudlak Syndrome
Brain
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Disease Models, Animal
Triazines
Congresses as Topic
Sphingolipids
A class of membrane lipids that have a polar head and two nonpolar tails. They are composed of one molecule of the long-chain amino alcohol sphingosine (4-sphingenine) or one of its derivatives, one molecule of a long-chain acid, a polar head alcohol and sometimes phosphoric acid in diester linkage at the polar head group. (Lehninger et al, Principles of Biochemistry, 2nd ed)
Morphological study on pigmented cells in the horse testis. (1/32)
One of the most attractive characteristics of a horse testis is the change of the weight during development. As the testicular weight changes and the number of Leydig cells decreases, pigments appear in interstitial tissues. In the present study, the characteristics of the pigments found in the interstitial tissues were examined histochemically and ultrastructurally. Specific stainings indicated that the pigmented granules showed almost all of the histological and histochemical characteristics of ceroid or ceroid-like pigment. The cells showed positive reaction for acid phosphatase while the pigmented cells contained a lot of lysosomes ultrastructurally. These results suggest that macrophages might phagocytize Leydig cells, and store their digested materials as ceroid-like pigment. (+info)Inducible nitric oxide synthase colocalizes with signs of lipid oxidation/peroxidation in human atherosclerotic plaques. (2/32)
OBJECTIVE: Advanced human atherosclerotic plaques are characterized by the abundant presence of the autofluorescent non-soluble lipid pigment ceroid, consisting of oxidized lipoproteins. The aim of the present study was to examine the topographical and cellular distribution of inducible nitric oxide synthase (iNOS or NOS II) within different stages of atherosclerosis and its colocalization with ceroid deposits and nitrotyrosine. METHODS AND RESULTS: Different stages of atherosclerosis were studied by immunohistochemistry on whole-mount longitudinal sections of carotid endarterectomy specimens. In the adaptive intimal thickening the predominant cell type were smooth muscle cells. The fatty streaks contained both smooth muscle cells and macrophages with an extremely low NOS II immunoreactivity. The advanced atherosclerotic plaques however, showed a very dense infiltration by macrophages, of which a subpopulation expressed NOS II as a vesicular immunoreactivity in their cytoplasm. These were mainly present around the necrotic core, in association with ceroid accumulation and nitrotyrosine. Fluorescence quenching microscopy showed the presence of NOS II on autofluorescent ceroid vesicles in the macrophages. Large extracellular ceroid granules were not NOS II immunoreactive. NOS II mRNA was detected by RT-PCR and the protein by Western blot in the plaque tissue but not in mammary arteries used as controls. CONCLUSION: Ceroid, nitrotyrosine and NOS II colocalized in late stages of atherosclerosis and were found around the necrotic core in the plaque. This could suggest that NOS II expression in macrophages is involved in oxidation and peroxidation of lipids, leading to ceroid formation. (+info)Proteasome inhibition by lipofuscin/ceroid during postmitotic aging of fibroblasts. (3/32)
We have studied the effects of hyperoxia and of cell loading with artificial lipofuscin or ceroid pigment on the postmitotic aging of human lung fibroblast cell cultures. Normobaric hyperoxia (40% oxygen) caused an irreversible senescence-like growth arrest after about 4 wk and shortened postmitotic life span from 1-1/2 years down to 3 months. During the first 8 wk of hyperoxia-induced 'aging', overall protein degradation (breakdown of [(35)S]methionine metabolically radiolabeled cell proteins) increased somewhat, but by 12 wk and thereafter overall proteolysis was significantly depressed. In contrast, protein synthesis rates were unaffected by 12 wk of hyperoxia. Lysosomal cathepsin-specific activity (using the fluorogenic substrate z-FR-MCA) and cytoplasmic proteasome-specific activity (measured with suc-LLVY-MCA) both declined by 80% or more over 12 wk. Hyperoxia also caused a remarkable increase in lipofuscin/ceroid formation and accumulation over 12 wk, as judged by both fluorescence measurements and FACscan methods. To test whether the association between lipofuscin/ceroid accumulation and decreased proteolysis might be causal, we next exposed cells to lipofuscin/ceroid loading under normoxic conditions. Lipofuscin/ceroid-loaded cells indeed exhibited a gradual decrease in overall protein degradation over 4 wk of treatment, whereas protein synthesis was unaffected. Proteasome specific activity decreased by 25% over this period, which is important since proteasome is normally responsible for degrading oxidized cell proteins. In contrast, an apparent increase in lysosomal cathepsin activity was actually caused by a large increase in the number of lysosomes per cell. To test whether lipofuscin/ceroid could in fact directly inhibit proteasome activity, thus causing oxidized proteins to accumulate, we incubated purified proteasome with lipofuscin/ceroid preparations in vitro. We found that proteasome is directly inhibited by lipofuscin/ceroid. Our results indicate that an accumulation of oxidized proteins (and lipids) such as lipofuscin/ceroid may actually cause further increases in damage accumulation during aging by inhibiting the proteasome. (+info)Phagocytosis and macrophage activation associated with hemorrhagic microvessels in human atherosclerosis. (4/32)
OBJECTIVE: Previously, we demonstrated that activated inducible NO synthase (iNOS)-expressing foam cells in human carotid plaques often produce autofluorescent (per)oxidized lipids (ceroid). Here, we investigate whether intraplaque microvessels can provide foam cells with lipids and trigger macrophage activation. METHODS AND RESULTS: Microvessels (von Willebrand factor [vWf] immunoreactivity), activated macrophages (iNOS immunoreactivity), and ceroid were systematically mapped in longitudinal sections of 15 human carotid endarterectomy specimens. An unbiased hierarchical cluster analysis classified vascular regions into 2 categories. One type with normal vWf expression and without inflammatory cells was seen, and another type with cuboidal endothelial cells, perivascular vWf deposits, and iNOS and ceroid-containing foam cells was seen in 4 (27%) of 15 plaques. The perivascular foam cells frequently contained platelets (glycoprotein Ibalpha) and erythrocytes (hemoglobin, iron), pointing to microhemorrhage/thrombosis and subsequent phagocytosis. Similar lipid-containing cells, expressing both ceroid and iNOS, were generated in atherosclerosis-free settings by incubating murine J774 macrophages with platelets or oxidized erythrocytes and also in vivo in organizing thrombi in normocholesterolemic rabbits. CONCLUSIONS: Focal intraplaque microhemorrhages initiate platelet and erythrocyte phagocytosis, leading to iron deposition, macrophage activation, ceroid production, and foam cell formation. Neovascularization, besides supplying plaques with leukocytes and lipoproteins, can thus promote focal plaque expansion when microvessels become thrombotic or rupture prone. (+info)A clinical variant of familial Hermansky-Pudlak syndrome. (5/32)
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with bleeding diathesis), and (3) disorder of "ceroid" metabolism with a multisystem tissue lysosomal ceroid deposition. HPS is less uncommon in Puerto Rico, where the most important studies have been performed, but is a very rare disease in Europe. HPS basic defect remains unknown, even if an HPS-causing gene was identified in chromosome segment 10q23-q23.3, and several mutations have been reported. The aim of this article is to discuss, on the basis of a review of relevant literature, a new familial HPS clinical variant observed in 2 young sisters (aged 16 and 23 years old, respectively), characterized by the typical symptoms of this syndrome. Our patients also suffered from diffuse interstitial pulmonary disease and an unexpectedly increased platelet aggregation and were prone to bacterial infections. Interestingly, we observed urinary tract abnormality in the younger HPS sister and a porencephalic cyst in the older HPS sister; both of these developmental defects have been reported in the Cross syndrome (or oculocerebral hypopigmentation syndrome). It seems that in our patients, an overlapping of the phenotypic manifestations of different rare syndromes may be present. The presence of ceroid-like autofluorescent material in urinary sediment together with the histologic aspects and the autofluorescence of oral mucosa biopsy are consistent with a ceroid-like lipofuscin storage. HPS should be carefully tested for in suspected cases to prevent the severe visual impairment, rapidly progressive pulmonary fibrosis, and other complications associated with this disorder. (+info)Ascorbic acid oxidation: a potential cause of the elevated severity of atherosclerosis in diabetes mellitus? (6/32)
The exposure of mouse peritoneal macrophages to cholesterol linoleate-containing artificial lipoproteins can lead to intracellular ceroid accumulation. This can be used as a model to study the role of oxidation in macrophage uptake of lipoproteins containing unsaturated fatty acids, considered by many as a primary event in atherosclerotic plaque formation. Our studies show that ascorbic acid can both inhibit and promote the formation of ceroid in such a model system. The transition metal copper (Cu(II)) further elevates ceroid accumulation and EDTA, a metal chelator, inhibits it. When trace levels of transition metals are present, low concentrations of ascorbic acid can elevate ceroid formation. This pro- and antioxidant characteristic of ascorbic acid was confirmed by monitoring the generation of oxidants by various concentrations of ascorbic acid, assessed by benzoic acid hydroxylation or the fragmentation of BSA. We discuss these observations in the context of an apparent increase in ascorbic acid oxidation and elevated severity of atherosclerosis in diabetes mellitus. (+info)Diagnostic usefulness of bronchoalveolar lavage in Hermansky-Pudlak syndrome: a case with double lung cancers. (7/32)
A 65-year-old man was admitted to our hospital because of dyspnea on exertion. He had oculocutaneous albinism innately and his parents were consanguineous. His chest roentgenogram on admission showed reticulo-nodular infiltrates and cystic changes throughout both lung fields, and 7 cm mass in the left middle field. Cytology of bronchoalveolar lavage fluid (BALF) revealed macrophages containing ceroid. The diagnosis of HPS was made clinically and the tumor was diagnosed as poorly differentiated adenocarcinoma of the lung. He died of respiratory failure. By autopsy, additional well-differentiated adenocarcinoma was detected. Cytology of BALF was useful to confirm ceroid accumulation in the lung. (+info)Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. (8/32)
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Neuronal ceroid lipofuscinosis (NCL)
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Neuronal ceroid lipofuscinosis - Wikipedia
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Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant (Concept Id: C1864923)
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Jansky-Bielschowsky disease
Late-Infantile neuronal ceroid lipofuscinosis. , U.S. National Library of Medicine". Anderson, Glenn W.; Goebel, Hans H.; ... Jansky-Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid ... synd/866 at Who Named It? GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis. ... "Batten DiseaseFact Sheet , National Institute of Neurological Disorders". Mole, Williams (August 2013). "Neuronal Ceroid- ...
Batten disease
It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). Although Batten disease is ... May 2008). "Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated ... Rakheja D, Narayan SB, Bennett MJ (September 2007). "Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review ... Jill M. Weimer; Elizabeth Kriscenski-Perry; Yasser Elshatory; David A. Pearce (2002). "The Neuronal Ceroid Lipofuscinoses: ...
Myoclonic epilepsy
Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement. All ... "Neuronal Ceroid-Lipofuscinoses". GeneReviews. Niedermeyer, Ernst (1992). "Epileptic Syndromes: A Remarkable Contribution of EEG ...
Kufs disease
2006). "Neuronal Ceroid Lipofuscinoses". GeneReviews (NCBI). Arsov, T; et al. (13 May 2011). "Kufs Disease, the Major Adult ... Kufs disease is one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs). NCLs are ... 2011). "Exome-sequencing confirms DNAJC5 mutations as cause of Adult Neuronal Ceroid-Lipofuscinosis". PLOS ONE. 6 (11): e26741 ... 2011). "Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid ...
List of OMIM disorder codes
CYP27A1 Ceroid lipofuscinosis, neuronal 8; 600143; CLN8 Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD Ceroid lipofuscinosis ... CLN3 Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5 Ceroid-lipofuscinosis, neuronal-6, variant late ... CLN8 Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1 Ceroid-lipofuscinosis, neuronal 2, classic late infantile; ... neuronal, 7; 610951; MFSD8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; ...
Frederick Batten
Sara Mole; Ruth Williams; Hans Goebel (10 March 2011). The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University ...
Tripeptidyl peptidase I
Mutations in the TPP1 gene leads to late infantile neuronal ceroid lipofuscinosis. The human gene TPP1 encodes a member of the ... Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY (August 2002). "Neuronal ceroid lipofuscinoses caused by defects in ... The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with pathological phenotypes ... Mole SE, Mitchison HM, Munroe PB (1999). "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3 ...
Cerliponase alfa
"Cerliponase alfa (Brineura) - Ceroid lipofuscinosis 2 (CLN2 disease)". National Institute of Neurological Disorders and Stroke ... Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease). 1852 (10 Pt B): 2237-41. doi:10.1016/j.bbadis.2015.05. ... Kohlschütter A, Schulz A, Bartsch U, Storch S (April 2019). "Current and Emerging Treatment Strategies for Neuronal Ceroid ... Mole SE, Cotman SL (October 2015). "Genetics of the neuronal ceroid lipofuscinoses (Batten disease)". Biochimica et Biophysica ...
Northern epilepsy syndrome
Epilepsy Neuronal ceroid lipofuscinosis CLN8 Krystyna E. Wiśniewski; Nanbert Zhong; Jeffrey C. Hall (2001). Batten disease: ... Northern epilepsy syndrome (NE), or progressive epilepsy with mental retardation (EPMR), is a subtype of neuronal ceroid ... ISBN 978-0-12-017645-8. page 125 "NEURONAL CEROID LIPOFUSCINOSIS 8 VIA THE CLN8 GENE". Prevention Genetics. Retrieved 23 March ... Warrier, V; Vieirab M; Mole SE (2013). "Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses". ...
CLN6
Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene. The CLN6 protein is part of ... "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant". Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit ... GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses Human CLN6 genome location and CLN6 gene details page in the ... 2003). "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat. 21 (5): ...
DNAJC5
Mutations in this gene may cause neuronal ceroid lipofuscinosis. GRCh38: Ensembl release 89: ENSG00000101152 - Ensembl, May ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis. ... Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid- ... cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis". American Journal of Human Genetics. 89 (2): 241-52. doi: ...
Night-blooming cereus
Ceroid cactus Pitaya Queen of the Night Hecht, Hans (1997). Cacti & Succulents. Sterling Pub. Co. p. 76. ISBN 978-0-8069-0549-5 ... Night-blooming cereus is the common name referring to a large number of flowering ceroid cacti that bloom at night. The flowers ...
Major facilitator superfamily
Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (October 2009). "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations ... "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3): 810-9 ...
CLN3
"Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)". Perland E, Fredriksson R ( ... Vesa J, Peltonen L (August 2002). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode ... Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses Human CLN3 genome location and CLN3 gene details page in the ...
Erika F. Augustine
She focuses on neuronal ceroid lipofuscinoses (NCLs) or Batten diseases, which are a group of rare pediatric neurodegenerative ... Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2015;57(4): ... Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). JIMD ... Juvenile Neuronal Ceroid Lipofuscinosis)". JIMD reports. 43: 117-124. doi:10.1007/8904_2018_113. ISSN 2192-8304. PMC 6323012. ...
VPS35
... and Neuronal Ceroid Lipofuscinosis". Molecular and Cellular Biology. 40 (19). doi:10.1128/MCB.00262-20. PMC 7491951. PMID ...
MFSD8
GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses Aiello C, Terracciano A, Simonati A, et al. (2009). "Mutations ... 2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3 ... 1999). "A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7". Mol. Genet. Metab. 66 (4): 337-8. doi: ... Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (2009). "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a ...
Model organism database
Bond M, Holthaus SM, Tammen I, Tear G, Russell C (November 2013). "Use of model organisms for the study of neuronal ceroid ...
Cathepsin D
Deficiency of CTSD gene has been reported an underlying cause of neuronal ceroid lipofuscinosis (NCL).[10] ...
CLN8
2000). "The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum". Hum. Mol. Genet. ... "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)". di Ronza A, Bajaj L, ... GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses Human CLN8 genome location and CLN8 gene details page in the ... Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid ...
Tibetan Terrier
... s can carry the genetic disease canine neuronal ceroid lipofuscinosis, called Batten disease in humans. The ... "Selection response to DNA testing for canine ceroid lipofuscinosis in Tibetan terriers". The Veterinary Journal. 201 (3): 433- ...
Jan Janský
Book "The Neuronal Ceroid Lipofuscinoses" Author Sara Mole, Ruth .Williams, Hans Goebel. Date Mar. 10, 2011. https://books. ...
PPT1
2002). "Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)". Curr. Mol. Med. 2 (5): ... 2007). "Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1". Neurology. 68 (5): 387- ... Defects in this gene are a cause of neuronal ceroid lipofuscinosis type 1 (CLN1). GRCh38: Ensembl release 89: ENSG00000131238 ... 2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3 ...
Torsten Sjögren
He was also involved in the characterization of juvenile neuronal ceroid lipofuscinosis. He should not be confused with Henrik ...
Glial fibrillary acidic protein
"Glial filaments are a major brain fraction in infantile neuronal ceroid-lipofuscinosis". Acta Neuropathologica. 65 (3-4): 190- ...
Palmitoyl(protein) hydrolase
Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses This article incorporates text from the public domain Pfam and ... the enzyme defective in infantile neuronal ceroid lipofuscinosis". Genomics. 34 (3): 317-22. doi:10.1006/geno.1996.0292. PMID ... "Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis". Nature. 376 (6541): 584 ...
PPT2
2001). "Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice". Proc. Natl. Acad. Sci. U.S.A. 98 ( ...
Lipofuscin
Terman, A, Brunk, UT (1998). "On the degradability and exocytosis of ceroid/lipofuscin in cultured rat cardiac myocytes". Mech ... S2CID 34448638.CS1 maint: multiple names: authors list (link) Terman, A; Brunk, UT (1998). "Ceroid/lipofuscin formation in ... neuronal ceroid lipofuscinoses, the most common of these is Batten disease. Also, pathological accumulation of lipofuscin is ... "Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): ...
Sweat gland
Neuronal ceroid lipofuscinosis causes abnormal deposits of lipopigment in sweat gland epithelial cells (among other places). ... Carlén, B.; Englund, E. (August 2001). "Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid ...
Ceroid cactus - Wikipedia
The term ceroid cactus (or sometimes just cereus) is used to describe any of the species of cacti with very elongated bodies, ... Some species of ceroid cacti were known as torch cactus or torch-thistle, supposedly due to their use as torches by Native ... although this general use of the word is regarded as misleading and the word ceroid or ceriform is preferred. The name cereus ...
Neuronal ceroid lipofuscinoses (NCL): MedlinePlus Medical Encyclopedia
Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through ... Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through ... The neuronal ceroid lipofuscinosis disorders. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaimans Pediatric Neurology ... Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis ...
Neuronal ceroid lipofuscinosis - Wikipedia
"eMedicine - Neuronal Ceroid Lipofuscinoses : Article by Celia H Chang". Claussen M, Heim P, Knispel J, Goebel HH, Kohlschütter ... Jul 2002). "Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3". ... Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative ... Pathologically, the ceroid-lipofuscin accumulates mainly in neurons and contains subunit C of the mitochondrial ATP synthase.[ ...
The neuronal ceroid-lipofuscinoses
... (NCLs) collectively constitute the most common group of neurodegenerative diseases in ... The neuronal ceroid-lipofuscinoses J Neuropathol Exp Neurol. 2003 Jan;62(1):1-13. doi: 10.1093/jnen/62.1.1. ... The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in ...
Neuronal Ceroid-Lipofuscinoses - MeSH - NCBI
Neuronal Ceroid-Lipofuscinoses. A group of severe neurodegenerative diseases characterized by intracellular accumulation of ... Diseases CategoryNutritional and Metabolic DiseasesMetabolic DiseasesLipid Metabolism DisordersLipidosesNeuronal Ceroid- ... autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the ...
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. - PubMed - NCBI
Orphanet: Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis. Disease definition Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive ... Diagnosis is based on clinical findings, electron microscopy studies revealing storage material with autofluorescent ceroid ... ceroid lipofuscin, in the neuronal cells in the brain and in the retina. ...
Molecular Genetics of the Neuronal Ceroid Lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are a group of clinically and genetically heterogenenous neurodegenerative disorders ... 1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 . Nature ... 2000) The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Human Molecular ... 2010) The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of ...
Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis - Full Text View - ClinicalTrials.gov
Genetic and Rare Diseases Information Center resources: Neuronal Ceroid Lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis ... Neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten disease, represent a group of the most common (1 in 12,500) ... Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med ... The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. In laboratory ...
CiNii 論文 -
Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis
...
Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis * * ABERG L. * Department of Pediatric Neurology, Hospital for ... Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) maps to the short arm of chromosome 1 JARVELA I. ... Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23 SHARP J. D ... Batten disease (Spielmeyer-Vogt ; juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16 GARDINER RM. ...
Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis - Full Text View - ClinicalTrials.gov
Genetic and Rare Diseases Information Center resources: Adult Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis ... Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis (JUMP). The safety and scientific validity of this study is ... Juvenile Neuronal Ceroid Lipofuscinosis Drug: Mycophenolate mofetil Drug: Liquid Placebo Phase 2 ... Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal disorder. Currently treatment is symptomatic. Thus, there is a real ...
Neuronal Ceroid Lipofuscinosis - Signs And Prognosis
Canine neuronal ceroid lipofuscinosis, a neurodegenerative disease; signs, diagnosis and prognosis; new forms of the diseases ... Neuronal Ceroid Lipofuscinosis. Neuronal ceroid-lipofuscinosis is a group of severe neurodegenerative diseases resulting from ... Diagnosis of ceroid lipofuscinosis is based upon clinical signs, especially in a susceptible breed. Cerebrospinal fluid ... Numerous mutations responsible for spontaneous neuronal ceroid-lipofuscinosis have been documented in domestic and research ...
neuronal ceroid lipofuscinosis 8 northern epilepsy variant Disease Ontology Browser - DOID:0110724
Synonyms: EPMR; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with ... neuronal ceroid lipofuscinosis 8 northern epilepsy variant (DOID:0110724) Alliance: disease page Synonyms: EPMR; northern ... Definition: A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by ... epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with mental retardation, ...
NCL-E - Neuronal Ceroid Lipofuscinosis/American Bully | Antagene
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function
Neuronal ceroid lipofuscinoses (NCL) are caused by mutations in eight different genes, are characterized by lysosomal ... Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function Cell Mol Life Sci. 2011 Feb;68(3):453-74. doi ... Neuronal ceroid lipofuscinoses (NCL) are caused by mutations in eight different genes, are characterized by lysosomal ...
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis) |...
Augustine E, Newhouse N, Adams H, Vierhile A, Kwon J, Marshall F, Mink J (2012) Epilepsy in juvenile neuronal ceroid ... Drack A, Augustine E, Grider T, Pearce D, Mullins R (2012) Anti-retinal antibodies in Juvenile Neuronal Ceroid Lipofuscinosis ( ... Hatonen T, Kirveskari E, Heiskala H, Sainio K, Laakso ML, Santavuori P (1999) Melatonin ineffective in neuronal ceroid ... Santavuori P, Moren R (1977) Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjogren type. ...
Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000-2011)
N. Koppang, "The English setter with ceroid-lipofuscinosis: a suitable model for the juvenile type of ceroid-lipofuscinosis in ... S. L. Hofmann and L. Petronen, "The neuronal ceroid lipofuscinoses," in The Metabolic and Molecular Bases of Inherited Disease ... R. D. Jolly, D. N. Palmer, R. H. Studdert et al., "Canine ceroid-ipofuscinoses: a review and classification," Journal of Small ... R. M. Taylor and B. R. H. Farrow, "Ceroid-lipofuscinosis in Border Collie dogs," Acta Neuropathologica, vol. 75, no. 6, pp. 627 ...
AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis - Full Text View - ClinicalTrials.gov
Genetic and Rare Diseases Information Center resources: Neuronal Ceroid Lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis ... Late Infantile Neuronal Ceroid Lipofuscinosis Batten Disease Biological: AAVrh.10CUCLN2 Phase 1 Phase 2 ... AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis. The safety and scientific validity of ... Neuronal Ceroid-Lipofuscinoses. Heredodegenerative Disorders, Nervous System. Neurodegenerative Diseases. Nervous System ...
Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses | American Journal of Neuroradiology
Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. A. Biswas, P. Krishnan, A. Amirabadi, S. Blaser, S. ... Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. A. Biswas, P. Krishnan, A. Amirabadi, S. Blaser, S. ... Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. A. Biswas, P. Krishnan, A. Amirabadi, S. Blaser, S. ... Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses Message Subject (Your Name) has sent you a message from ...
The neuronal ceroid lipofuscinoses: the same, but different? | Biochemical Society Transactions | Portland Press
The neuronal ceroid lipofuscinoses: the same, but different? Jonathan D. Cooper Jonathan D. Cooper 1 ... The NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage ... Batten disease, lysosomal dysfunction, lysosomal storage disorder (LSD) neuroimmune response, neuronal ceroid lipofuscinosis ( ... Jonathan D. Cooper; The neuronal ceroid lipofuscinoses: the same, but different?. Biochem Soc Trans 1 December 2010; 38 (6): ...
Athena Diagnostics - Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis
could lipofuscin/ceroid be the main driver of aging?
lipofuscin/ceroid directly inhibits proteasomes.] FASEB J. 2000 Aug;14(11):1490-8. Proteasome inhibition by lipofuscin/ceroid ... we next exposed cells to lipofuscin/ceroid loading under normoxic conditions. Lipofuscin/ceroid-loaded cells indeed exhibited a ... Subject: could lipofuscin/ceroid be the main driver of aging? [Summary: normal metabolism in cells with a low turnover causes ... We have studied the effects of hyperoxia and of cell loading with artificial lipofuscin or ceroid pigment on the postmitotic ...
An Anti-Neuroinflammatory That Targets Dysregulated Glia Enhances the Efficacy of CNS-Directed Gene Therapy in Murine Infantile...
neuronal ceroid lipofuscinosis. Introduction. Infantile neuronal ceroid lipofuscinosis (INCL, or CLN1 disease) is a rare, ... 2009) Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis. Brain Res 1266:93-107, doi:10.1016/j. ... 2001) Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci U S A 98:13566- ... 2011) The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. J Neurosci 31:15575-15585, doi: ...
Neuronal ceroid lipofuscinosis | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Neuronal ceroid ... Ceroid lipofuscinosis neuronal 1; Neuronal ceroid lipofuscinosis 10 ; Neuronal ceroid lipofuscinosis 2; Neuronal ceroid ... Adult neuronal ceroid lipofuscinosis; Autosomal dominant neuronal ceroid lipofuscinosis 4B; Ceroid lipofuscinosis neuronal 1; ... Neuronal ceroid lipofuscinosis 6; Neuronal ceroid lipofuscinosis 7; Neuronal ceroid lipofuscinosis 9; Northern epilepsy See ...
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of...
Frontiers | Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics...
Neuronal ceroid lipofuscinosis: a common pathway? Pediatr Res (2007) 61:146-52. doi:10.1203/pdr.0b013e31802d8a4a ... Association between CLN3 (neuronal ceroid lipofuscinosis, CLN3 type) gene expression and clinical characteristics of breast ... Neuronal Ceroid Lipofuscinosis 3 (CLN3) expression was also increased 3-fold (p = 0.077) and ceramide galactosyltransferase ( ... Neuronal Ceroid Lipofuscinosis 3 (CLN3), and ceramide galactosyltransferase (UGT8). Values are means of the fold changes ...
MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. | American Journal of...
MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis.. D Seitz, W Grodd, A Schwab, ... PURPOSE Late juvenile neuronal ceroid lipofuscinosis (NCL) is a lysosomal neurodegenerative disorder caused by the accumulation ... Assessing Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis Using Quantitative MR Diffusion-Weighted Imaging ... MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. ...
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? | Biochemical Society Transactions
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?. Charles Shyng, Mark S. Sands ... Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? Message Subject (Your Name) has forwarded a page to ... Infantile neuronal ceroid lipofuscinosis (INCL; infantile Batten disease) is an inherited paediatric neurodegenerative disease ... Abbreviations: CNS, central nervous system; GFAP, glial fibrillary acidic protein; INCL, infantile neuronal ceroid ...
PLOS Genetics: A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid...
NCLsLate infantile neuronalInfantileLIPOFUSCINJNCLNeuronsKnown as Batten diseaseBatten DiseaseNeuronal ceroid lipofuscinDisordersCLN2DiseaseCLN6NeurodegenerationMutationsGeneticProteinsRecessiveLysosomeGeneAdult neuronalINCLMutationNervous SystemNeurodegenerative DiseasesTypeGenesCLN5PPT1HomozygousDiagnosisSymptomsLipofuszinoseClinicalNeurological
NCLs27
- The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an autosomal recessive mode of inheritance. (nih.gov)
- Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. (orpha.net)
- The neuronal ceroid lipofuscinoses (NCLs) are a group of clinically and genetically heterogenenous neurodegenerative disorders characterised by the accumulation of autofluorescent storage material in many cell types. (els.net)
- NCLs are a heterogenous group of disorders with common features of progressive degeneration of the brain, and often the retina, and intracellular storage of material similar to ceroid and lipofuscin. (els.net)
- The NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage disorders. (portlandpress.com)
- Uncomfortably straddling all of these classification schemes sit the NCLs (neuronal ceroid lipofuscinoses), a group of at least ten storage disorders that are more commonly known as Batten disease [ 3 , 4 ]. (portlandpress.com)
- This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes associated with neuronal ceroid lipofuscinoses (NCLs), a group of progressive neurodegenerative disorders. (athenadiagnostics.com)
- The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central nervous system, but there is accumulating evidence that they have co-morbidities outside the brain. (open.ac.uk)
- The neuronal ceroid lipofuscinoses (NCLs, or Batten disease) comprise the most common Mendelian form of childhood-onset neurodegeneration, but the functions of the known underlying gene products remain poorly understood. (pubmedcentralcanada.ca)
- The neuronal ceroid lipofuscinoses (NCLs, also known as Batten disease) comprise a group of at least 10 distinct lysosomal storage diseases with overlapping clinical features including pigmentary retinal degeneration and visual failure in most cases, progressive motor and cognitive decline, epilepsy, movement disorder, and eventual premature death [ 1 ]. (pubmedcentralcanada.ca)
- The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, with the United States and Northern European populations having slightly higher frequency with an occurrence of one in 10,000. (wikipedia.org)
- Batten disease or neuronal ceroid lipofuscinoses (NCLs) is one of the most common reasons for childhood dementia, characterized by brain atrophy, blindness, mental decline and premature death. (lincoln.ac.nz)
- Neuronal ceroid lipofuscinoses (NCLs), the most common childhood neurodegenerative illnesses, are a group of fatal, autosomal recessive lysosomal storage disorders, with many features in common with more prevalent neurodegenerative diseases, including oxidative stress, neuroinflammation and protein aggregation (reviewed by Jalanko and Braulke, 2009 ). (biologists.org)
- To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations. (biomedcentral.com)
- The neuronal ceroid lipofuscinoses (NCLs) are the most common group of inherited, progressive neurodegenerative diseases of childhood, which are secondary to abnormal intralysosomal storage of autofluorescent material and show specific ultrastructural features. (biomedcentral.com)
- The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative lysosomal storage disorders caused by the accumulation of ceroid and lipofuscin in various cell types, mainly cells of the cerebral cortex, cerebellar cortex, and retina (Dyken et al. (preventiongenetics.com)
- The neuronal ceroid lipofuscinoses or NCLs are a group of inherited neurodegenerative disorders in which defects in enzymes lead to an accumulation of specific molecules in cells leads to degeneration of nerve cells. (arizona.edu)
- It belongs in a group of neurodegenerative disorders called Neuronal ceroid lipofuscinoses (NCLs), also known as the Batten disease. (animalabs.com)
- Individuals with later-onset CLN10 disease have a shortened lifespan, depending on when their signs and symptoms first started.CLN10 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). (icdlist.com)
- Batten disease is one of a group of diseases called neuronal ceroid lipofuscinoses, or NCLs. (news-medical.net)
- The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. (nebraska.edu)
- Pathological hallmarks of NCLs include the accumulation of storage material or ceroid in the lysosome, progressive neuronal degeneration and massive glial activation. (nebraska.edu)
- Recent advances in our understanding of lysosomal storage disorders (LSDs) may lead to new therapies to treat the neuronal ceroid-lipofuscinoses (NCLs). (elsevier.com)
- Infantile and late-infantile neuronal ceroid lipofuscinoses (NCLs) are invariably fatal lysosomal storage diseases associated with defects in lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT-1) or tripeptidyl peptidase 1 (TPP1) activity. (umn.edu)
- Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease, constitute a group of the most prevalent neurodegenerative lysosomal storage disorders (LSDs). (biomedcentral.com)
- At the cellular level, all NCLs show intracellular accumulation of autofluorescent material (called ceroid) and progressive neuron loss. (biomedcentral.com)
- It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). (wikipedia.org)
Late infantile neuronal7
- This study is designed to run parallel to our currently IRB approved protocol #0810010013 entitled 'Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children with Late Infantile Neuronal Ceroid Lipofuscinosis,' which will assess the safety and efficacy of the virus AAVrh.10 to deliver the CLN2 gene to children in the early stages of the disease. (clinicaltrials.gov)
- Subjects will be accrued through IRB approved protocol #0901010186 entitled, 'Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis (2). (clinicaltrials.gov)
- MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. (ajnr.org)
- Late infantile neuronal ceroid lipofuscinosis (also known as LINCL, Jansky-Bielschowsky and late infantile CLN2/TPP1 disorder) is part of a group of progressive degenerative neurometabolic disorders known as the ceroid lipofuscinosis neuronal (CLNs). (checkorphan.org)
- MFSD8 mutation causing variant late infantile neuronal ceroid lipofuscinosis (vLINCL) in three Palestinian siblings of Arab Descent. (alliedacademies.org)
- Mutations in the gene encoding CLN5 are the cause of Finnish variant late infantile Neuronal Ceroid Lipofuscinosis (NCL), and the gene encoding CLN5 is 1 of 10 genes (encoding CLN1 to CLN9 and cathepsin D ) whose germ line mutations result in a group of recessive disorders of childhood. (bvsalud.org)
- Infantile Neuronal Ceroid Lipofuscinosis (INCL) , Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) , and Juvenile Neuronal Cerioid Lipofuscinosis (JNCL) . (proteopedia.org)
Infantile11
- This study will examine the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL), a progressive neurological disease affecting children. (clinicaltrials.gov)
- Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative lysosomal storage disease (LSD) caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). (jneurosci.org)
- Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? (biochemsoctrans.org)
- NCL er flokka ni ur eftir v hva a einkenni koma fram og hven r. fyrsta flokknum ( infantile NCL ,INCL ) er barni einkennalaust vi f ingu en f r br einkenni milli 6 m na a og 2 ra aldurs. (greining.is)
- Infantile Neuronal Ceroid Lipofuscinoses is a neurodegenerative disorder that results from a build up of lipofuscin pigments in a child's body tissues. (disabilitybenefitscenter.org)
- Children who have Infantile Neuronal Ceroid Lipofuscinoses generally appear normal when they are born, but begin to lose their vision around six months of age. (disabilitybenefitscenter.org)
- Typical symptoms of Infantile Neuronal Ceroid Lipofuscinoses include a very small head, muscle contractions (generally sharp and short), and delayed development of motor skills, especially if the motor skills deteriorate. (disabilitybenefitscenter.org)
- There is no cure, or even effective treatment for Infantile Neuronal Ceroid Lipofuscinoses. (disabilitybenefitscenter.org)
- Doctors can and do treat those who also have seizures as a result of Infantile Neuronal Ceroid Lipofuscinoses with epilepsy medication, but there is no medication currently available to address the actual disease. (disabilitybenefitscenter.org)
- The main thing to be concerned with when applying for Social Security Disability benefits with Infantile Neuronal Ceroid Lipofuscinoses is to make sure that all of the medical documentation is complete. (disabilitybenefitscenter.org)
- Infantile neuronal ceroid lipofuscinoses: INCLs), or Batten Disease, is an inherited neurodegenerative lysosomal storage disorder affecting the central nervous system: CNS) during infancy or childhood. (wustl.edu)
LIPOFUSCIN17
- Neuronal ceroid lipofuscinosis (NCL) is a rare group of inherited, neurodegenerative lysosomal storage diseases characterized histopathologically by the abnormal accumulation of ceroid- or lipofuscin-like autofluorescent lipopigments in neurons, retinal cells, and other visceral cells throughout the body [ 1 - 4 ]. (hindawi.com)
- could lipofuscin/ceroid be the main driver of aging? (cryonet.org)
- Nafni tengist litnum gulu fitunum ceroid og lipofuscin sem safnast upp taugafrumum. (greining.is)
- Autofluorescent intracellular debris, termed lipofuscin, accumulates in all neurons of the Neuronal Ceroid Lipofuscinosis (NCL) variants and leads to visual impairment, as well as mental and motor deficits. (arvojournals.org)
- Due to the clear predominance of intraneuronal lipofuscin storage material and the characteristic clinical presentation we propose to classify this disease as a new subtype of neuronal ceroid lipofuscinosis (CLN15). (biomedcentral.com)
- Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. (wikipedia.org)
- Thirteen genetically distinct genes have been identified that when mutated, result in abnormal lysosomal function and an excessive accumulation of ceroid lipofuscin in neurons, as well as other cell types outside of the central nervous system. (biomedcentral.com)
- The lipopygment lipofuscin in case of Neuronal ceroid lipofuscinosis builds up in the neural cells and some organs, such as liver, spleen, kidneys etc. (animalabs.com)
- Similarities of the different NCL also concern elements of their pathophysiology, which is characterized by loss of neurons and accumulation of a material called ceroid lipofuscin. (ai-online.info)
- The neuronal ceroid lipofuscinoses (NCL) are a heterogeneous group of genetic lysosomal disorders characterized by the accumulation of a waxy intracellular storage material termed ceroid lipofuscin and progressive neurological deterioration, usually associated with dementia and epilepsy, frequently also with visual loss due to retinopathy. (ai-online.info)
- We have studied the effects of hyperoxia and of cell loading with artificial lipofuscin or ceroid pigment on the postmitotic aging of human lung fibroblast cell cultures. (qxmd.com)
- Hyperoxia also caused a remarkable increase in lipofuscin/ceroid formation and accumulation over 12 wk, as judged by both fluorescence measurements and FACscan methods. (qxmd.com)
- To test whether the association between lipofuscin/ceroid accumulation and decreased proteolysis might be causal, we next exposed cells to lipofuscin/ceroid loading under normoxic conditions. (qxmd.com)
- Lipofuscin/ceroid-loaded cells indeed exhibited a gradual decrease in overall protein degradation over 4 wk of treatment, whereas protein synthesis was unaffected. (qxmd.com)
- To test whether lipofuscin/ceroid could in fact directly inhibit proteasome activity, thus causing oxidized proteins to accumulate, we incubated purified proteasome with lipofuscin/ceroid preparations in vitro. (qxmd.com)
- We found that proteasome is directly inhibited by lipofuscin/ceroid. (qxmd.com)
- Our results indicate that an accumulation of oxidized proteins (and lipids) such as lipofuscin/ceroid may actually cause further increases in damage accumulation during aging by inhibiting the proteasome. (qxmd.com)
JNCL8
- 2008) A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis (JNCL). (els.net)
- Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal disorder. (clinicaltrials.gov)
- Algengasta formi Nor url ndunum og Bandar kjum Nor ur Amer ku heitir Batten sj kd mur sem einnig kallast Juvenile Neuronal Ceroid Lipofuscinosis ( JNCL ), Spielmeyer-Vogt sj kd mur e a Sj gren sj kd mur. (greining.is)
- Batten/JNCL sj kd mur erfist alltaf v kjandi en arf barn a erfa st kkbreytingu b i fr f ur og m ur til a sj kd murinn komi fram. (greining.is)
- Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death. (elifesciences.org)
- Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) is the most prevalent inherited neurodegenerative disease in childhood caused by autosomal recessive loss-of-function mutations in the CLN3 gene. (elifesciences.org)
- Abeona Therapeutics, Inc. (NASDAQ: ABEO) , a biopharmaceutical company focused on developing and delivering products for severe and life-threatening rare diseases, today announced the presentation of preclinical data on AB0-201 (AAV CLN3) for Juvenile neuronal ceroid lipofuscinosis (JNCL) (also known as juvenile Batten disease). (redchip.com)
- Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal pediatric lysosomal disease (LSD) caused by an autosomal recessive mutation in CLN3 . (redchip.com)
Neurons3
- Neuronal ceroid-lipofuscinosis is a group of severe neurodegenerative diseases resulting from the intracellular accumulation of wax-like lipid materials in neurons. (gopetsamerica.com)
- PURPOSE Late juvenile neuronal ceroid lipofuscinosis (NCL) is a lysosomal neurodegenerative disorder caused by the accumulation of lipopigment in neurons. (ajnr.org)
- The Neuronal Ceroid-Lipofuscinoses (NCL) is a group of rare neurodegenerative disorders characterized by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. (alliedacademies.org)
Known as Batten disease1
- Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a debilitating neurological disorder that affects both children and adults. (biomedcentral.com)
Batten Disease2
- There are at least eight genetic entities known as the ceroid-lipofuscinoses in humans which share clinical and pathological features that have caused them to be grouped together under the eponym of Batten disease. (elsevier.com)
- Neuronal ceroid lipofuscinosis 2 (CLN2) or Batten disease is a lysosomal storage disease which primarily affects the nervous system. (penyakitlangkaindonesia.org)
Neuronal ceroid lipofuscin2
- however, autosomal dominant inheritance has been reported in one adult-onset form ( neuronal ceroid lipofuscinosis 4B ). (nih.gov)
- Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis , which is a rare condition that affects the nervous system. (nih.gov)
Disorders4
- Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. (medlineplus.gov)
- The neuronal ceroid lipofuscinosis disorders. (medlineplus.gov)
- Neuronal Ceroid Lipofuscinosis (NCL) is a group of severe inherited neurodegenerative disorders. (egms.de)
- Neurodegenerative disorders of childhood: neuronal ceroid lipofuscinoses. (adam.com)
CLN26
- Diagnosis is based on clinical findings, electron microscopy studies revealing storage material with autofluorescent ceroid lipopigments, and enzymatic testing for deficiencies in palmitoyl-protein thioesterase 1, tripeptidyl-peptidase 1 and cathepsin D, present in patients with the CLN1, CLN2 and CLN10 diseases, respectively. (orpha.net)
- Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease is a topic covered in the 5-Minute Clinical Consult . (unboundmedicine.com)
- Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare autosomal recessive lysosomal storage disease. (unboundmedicine.com)
- This biochemical test is a quantitative measurement of tripeptidyl peptidase 1 enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). (isinproduction.com)
- Demonstration of deficient tripeptidyl peptidase 1 enzyme activity is considered the gold standard to confirm a diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). (isinproduction.com)
- This test can be used to confirm a suspected neuronal ceroid lipofuscinosis 2 (CLN2) diagnosis. (isinproduction.com)
Disease12
- A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs' disease marked by fingerprint and curvilinear lipopigments in neural and nonneural cell types. (nih.gov)
- The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. (clinicaltrials.gov)
- Neuronal ceroid lipofuscinoses (NCL) are caused by mutations in eight different genes, are characterized by lysosomal accumulation of autofluorescent storage material, and result in a disease that causes degeneration of the central nervous system (CNS). (nih.gov)
- Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative lysosomal disease that causes premature death. (hindawi.com)
- Defects in this gene lead to Juvenile Neuronal Ceroid Lipofuscinosis or CLN3 disease, a pediatric neurodegenerative disease ( 10 ). (frontiersin.org)
- Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)? (biomedcentral.com)
- Microglia and Müller cell status has not been well defined in retinal degeneration of neurodegenerative disease neuronal ceroid lipofuscinosis (NCL). (uni-regensburg.de)
- We characterized the behavioural phenotype of spontaneous mutant mice modeling CLN6 disease, and demonstrate progressive motor and visual decline and reduced lifespan in these mice, consistent with symptoms observed in neuronal ceroid lipofuscinosis patients. (biologists.org)
- Neuronal ceroid lipofuscinosis Tibetan terrier type (NCL) is an autosomal recessive genetic disease. (animalabs.com)
- Since neuronal ceroid lipofuscinosis Tibetan terrier type (NCL) is an autosomal recessive disease, the inheritance pattern is following: the healthy parents of a cub with an autosomal recessive form of NCL are obligate heterozygotes, and therefore carry one mutant allele. (animalabs.com)
- Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. (rareidnews.com)
- Neuronal Ceroid Lipofuscinosis 1 (NCL1) is a neurological disease, with typical signs of rapidly progressing vision impairment, ataxia (uncontrolled movements), and behavioral changes, such as anxiety, sound sensitivity, and inability to recognize familiar individuals. (wisdompanel.com)
CLN62
- Purkinje cells not only control motor function, an early symptomatic change in the CLN6 mice, but also display prominent neuropathological changes in mouse models and patients with different forms of neuronal ceroid lipofuscinoses. (biologists.org)
- These mice carry a spontaneous mutation at the Cln6 locus characterized by abnormal proteolipid storage by lysosomes (neuronal ceroid lipofuscinosis). (jax.org)
Neurodegeneration1
- Neuronal ceroid lipofuscinosis Tibetan terrier type is characterized with a progressive neurodegeneration that results in severe neurological impairment and premature death. (animalabs.com)
Mutations2
- Numerous mutations responsible for spontaneous neuronal ceroid-lipofuscinosis have been documented in domestic and research animals including sheep, cattle, mice and dogs. (gopetsamerica.com)
- Neuronal ceroid lipofuscinoses are caused by mutations in CLN genes. (biologists.org)
Genetic4
- AnimaLabs offers genetic testing for Neuronal ceroid lipofuscinosis Tibetan terrier type (NCL). (animalabs.com)
- Since the severity of this group of diseases, genetic testing for Neuronal ceroid lipofuscinosis Tibetan Terrier type (NCL) is highly recommened. (animalabs.com)
- The neuronal ceroid lipofuscinoses (NCL) are a heterogeneous group of genetic lysosomal storage diseases causing dementia, epilepsy, motor deterioration and mostly also visual loss through retinal degeneration. (ai-online.info)
- CLN9 (Ceroid-Lipofuscinosis, Neuronal 9) is a Genetic Locus. (genecards.org)
Proteins1
- 2004) Localization of wild‐type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non‐neuronal and neuronal cells. (els.net)
Recessive2
- A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. (diva-portal.org)
- The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. (isinproduction.com)
Lysosome1
- An important gene associated with Ceroid Lipofuscinosis, Neuronal, 10 is CTSD (Cathepsin D), and among its related pathways/superpathways is Lysosome . (malacards.org)
Gene6
- 2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid‐lipofuscinosis. (els.net)
- 2003) Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. (els.net)
- A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (jax.org)
- The dog carries two copies of the mutant CTSD gene and is homozygous for Neuronal Ceroid Lipofuscinosis. (animalgenetics.us)
- Dog is a carrier for the Neuronal Ceroid Lipofuscinosis mutation and can pass on a copy of the defective gene to its offspring. (animalgenetics.us)
- Additional support for the involvement of CTSF gene in CLN13 is provided by the development, in a ctsf knock-out mouse model, of a phenotype and pathological findings similar to that of human adult-onset neuronal ceroid lipofuscinosis (Tang et al. (preventiongenetics.com)
Adult neuronal2
- Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. (nih.gov)
- Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report. (harvard.edu)
INCL1
- In laboratory experiments, Cystagon has helped remove ceroid from cells of patients with INCL. (clinicaltrials.gov)
Mutation1
- Mice homozygous for the neuronal ceroid lipofuscinosis mutation ( nclf ) have a phenotype that is very similar to mice homozygous for the motor neuron degeneration mutation ( mnd ). (jax.org)
Nervous System2
- Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. (nih.gov)
- 50 neuronal ceroid lipofuscinosis 10 (cln10-ncl) is a rare condition that affects the nervous system. (malacards.org)
Neurodegenerative Diseases1
- Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative diseases. (biologists.org)
Type3
- a new type of neuronal ceroid lipofuscinosis (CLN15)? (biomedcentral.com)
- Animal Genetics offers DNA testing for Neuronal Ceroid Lipofuscinosis Type 10. (animalgenetics.us)
- Neuronal ceroid lipofuscinosis (NCL) type 2 is a rare metabolic disorder leading to recurrent seizures , language and motor delays, and developmental regression in pediatric patients. (symptoma.com)
Genes1
- Candidates for the CTSF test are patients with a clinical diagnosis suggestive of neuronal ceroid lipofuscinosis and no pathogenic variants in the remaining NCL genes. (preventiongenetics.com)
CLN51
- The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. (bvsalud.org)
PPT11
- NCL safnast upp kve nar sameindir fitu og pr teina ( ceroid og lipufuscin ) og er ekkt a truflun remur hv tum geta valdi sj kd mnum ( PPT1,TPP-1 og CathepsinD/CTSD ). (greining.is)
Homozygous2
- Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis. (sigmaaldrich.com)
- Homozygous mutant mice display abnormal proteolipid storage by lysosomes termed neuronal ceroid lipofuscinosis. (jax.org)
Diagnosis2
- Diagnosis of ceroid lipofuscinosis is based upon clinical signs, especially in a susceptible breed. (gopetsamerica.com)
- The main differential diagnosis is ceroid lipofuscinosis. (sigmaaldrich.com)
Symptoms1
- Ceroid Lipofuscinosis, Neuronal, 10, also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency , is related to breast cancer and prostatitis , and has symptoms including seizures , microcephaly and respiratory insufficiency . (malacards.org)
Lipofuszinose1
- Die Neuronale Ceroid Lipofuszinose (NCL) oder Ataxie ist eine neurodegenerative Erkrankung. (labogen.com)
Clinical1
- Finding the right clinical trial for Ceroid Lipofuscinosis Neuronal 9 can be challenging. (diseaseinfosearch.org)
Neurological1
- We report the electroencephalographic (EEG) features of 22 patients with neuronal ceroid lipofuscinoses (NCL) who were referred to the Neurological Institute of Milan between 1984 and 1998. (elsevier.com)