ceroid lipofuscinosis


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Bat·ten dis·ease

(bat'ĕn),
cerebral sphingolipidosis, late juvenile type.
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.
A 9-year-old boy with a history of neuronal ceroid lipofuscinosis with acute repetitive seizures, in bedridden status, was admitted to the Phramongkutklao Hospital due to community-acquired pneumonia and had myoclonic seizures more than 100 times per day.
Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis.
Van Der Kant et al., "Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments," Cellular and Molecular Life Sciences, vol.
Haltia, "MRI of neuronal ceroid lipofuscinosis. II.
A postmortem diagnosis of neuronal ceroid lipofuscinosis (NCL) was made based on the presence of neuronal granular cytoplasmic material that was autofluorescent and stained with periodic acid Schiff and Luxol fast blue.
The data were derived from postmortem examinations of three patients in the company's Phase I clinical trial of HuCNS-SC cells in neuronal ceroid lipofuscinosis (NCL, also referred to as Batten disease), a rare and fatal neurode-generative disorder in children.
It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs).