ceroid lipofuscinosis, neuronal, type 2

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ceroid lipofuscinosis, neuronal, type 2

A form of neuronal ceroid lipofuscinosis (OMIM:204500), a group of progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material, and clinically characterised by seizures, dementia, visual loss and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.

Molecular pathology
Defects of TPPI, which encodes a member of the sedolisin family of serine proteases, cause neuronal ceroid lipofuscinosis type 2.
References in periodicals archive ?
Without it these children suffering from CLN2 Batten disease will die.
Catherine and the Rich family used the meeting with the Health Secretary to urge him to convene an emergency meeting with NICE, NHS England and BioMarin - the manufacturer of the treatment - to find a way of overcoming the barriers to making Brineura available on the NHS, and to look at whether an exception should be made in this case given the very small number of children affected by CLN2 Batten Disease who want to access the treatment on the health service.
Ms McKinnell and the Rich family used the meeting with the Health Secretary to urge him to convene an emergency meeting with NICE, NHS England and BioMarin - the manufacturer of the treatment - to find a way of overcoming the barriers to making Brineura available on the NHS, and to look at whether an exception should be made in this case, given the very small number of children affected by CLN2 Batten disease who want to access the treatment on the health service.
Although they were born as seemingly healthy children, CLN2 Batten Disease causes waste materials to build up in the brain, which could kill Ollie and leave Amelia in a wheelchair if left untreated for 12 months.
M2 EQUITYBITES-February 1, 2019-REGENXBIO wins US FDA's Rare Pediatric Disease Designation for RGX-181 Gene Therapy for the CLN2 Batten Disease
Global Banking News-February 1, 2019-REGENXBIO wins US FDA's Rare Pediatric Disease Designation for RGX-181 Gene Therapy for the CLN2 Batten Disease
M2 PHARMA-February 1, 2019-REGENXBIO wins US FDA's Rare Pediatric Disease Designation for RGX-181 Gene Therapy for the CLN2 Batten Disease
Pharmacology studies conducted in an animal model of CLN2 disease demonstrated that a single administration of RGX-181 resulted in widespread distribution and sustained expression of the TPP1 enzyme in the CNS with significant improvements in neurobehavioral function and survival of the animals.
THURSDAY, April 26, 2018 (HealthDay News) -- For children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease, intraventricular infusion of cerliponase alfa is associated with reduced decline in motor and language function, according to a study published online April 24 in the New England Journal of Medicine.
Brineura is the first FDA-approved treatment to slow loss of walking ability in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.