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References in periodicals archive ?
The company said that RGX-181 is a one-time treatment candidate for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene.
Neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoylprotein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases.
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.
Abbreviations SE: Status epilepticus NCSE: Nonconvulsive status epilepticus ARS: Acute repetitive seizures NCL: Neuronal ceroid lipofuscinosis AEDs: Antiepileptic drugs IV: Intravenous LCM: Lacosamide LEV: Levetiracetam CZP: Clonazepam VPA: Valproic acid TPM: Topiramate DZP: Diazepam CLB: Clobazam PPN: Perampanel LTG: Lamotrigine PHT: Phenytoin PB: Phenobarbital CBZ: Carbamazepine.
Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis.
Key words: neuronal ceroid lipofuscinosis, neurodegenerative disorders, NCL, waterfowl, avian, mallard duck, Anas platyrhynchos
Lafora disease is one of five major conditions that account for the majority of the progressive myoclonic epilepsies (i.e., Lafora disease, Unverricht-Lundborg disease , mitochondrial diseases, sialidosis, and neuronal ceroid lipofuscinosis).
StemCells says the proposed Phase I trial is designed to evaluate the safety and preliminary efficacy of HuCNS-SC as a treatment of infantile and late-infantile neuronal ceroid lipofuscinosis. The trial will not treat patients with a third form of the disease, juvenile NCL.
Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis. Biochem Biophys Res Commun 2000;268:904-8.
* storage or degenerative myoclonus such as sialidoses (cherry-red-spot-myoclonus); lipidoses; lysosomal storage diseases (e.g., 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;
Biotechnology company REGENXBIO Inc (Nasdaq:RGNX) reported on Wednesday the receipt of the US Food and Drug Administration's (FDA) orphan drug designation for the one-time treatment candidate RGX-181 for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
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