ceroid lipofuscinosis


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Bat·ten dis·ease

(bat'ĕn),
cerebral sphingolipidosis, late juvenile type.

ceroid lipofuscinosis

see ceroid lipofuscinosis.
References in periodicals archive ?
has been granted Orphan Drug Designation for PLX-200 for the treatment of neuronal ceroid lipofuscinosis (NCL) by the European Medicines Agency (EMA), the company said.
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe lysosomal disease caused by mutations in the CLN1 gene, which encodes the soluble lysosomal enzyme Palmitoyl- Protein-Thioesterase-1 (PPT1) and result in osmiophilic granules accumulating in lysosomes and leading to neuroinflammation, neurodegeneration and death.
Key words: neuronal ceroid lipofuscinosis, neurodegenerative disorders, NCL, waterfowl, avian, mallard duck, Anas platyrhynchos
Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis.
AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.
Palo Alto, CA, announced it has received approval from the Institutional Review Board (IRB) of the Oregon Health & Science University (OHSU), Portland, OR, to initiate a Phase I clinical trial of the company's proprietary human neural stem cell product - HuCNS-SC - to treat infantile and late-infantile neuronal ceroid lipofuscinosis (NCL), two forms of a group of disorders often referred to as Batten disease.
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Niemann-Pick type C, Tay-Sachs, Sandhoff's); other storage disorders (neuronal ceroid lipofuscinosis, neuronal brain iron accumulation type 1, Wilson's disease, Lafora body disease); Baltic myoclonus; spinocerebellar ataxias or SCAs; dentatorubropallidoluysian atrophy (DRPLA); multiple sclerosis; and certain mitochondrial disorders;
StemCells has completed a Phase I clinical trial of its HuCNS-SC cells for the treatment of Neuronal Ceroid Lipofuscinosis (NCL), a fatal brain disorder in children.
Moreover, S100B production and subsequent RAGE expression can lead to neuronal apoptosis mediated by ER-stress in infantile neuronal ceroid lipofuscinosis (INCL) and palmitoyl-protein thioesterase-1- (PPT1-) KO mice [104-106].
The protective role of autophagy has been identified in several unfolded protein accumulating disorders in the nervous system, such as Alzheimer's disease, Huntington's disease, multiple system atrophy, amyotrophic lateral sclerosis, and neuronal ceroid lipofuscinosis.
Biopharmaceuticals company BioMarin Pharmaceutical Inc (NasdaqGS:BMRN) said on Monday that it has dosed the first patient with BMN 190 for the treatment of neuronal ceroid lipofuscinosis type 2 (NCL-2) in the Phase 1/2 trial.