lipofuscinosis

(redirected from ceroid lipofuscinosis)
Also found in: Medical.
Translations

lip·o·fus·ci·no·sis

n. lipofuscinosis, almacenamiento anormal de cualquiera de los pigmentos adiposos.
English-Spanish Medical Dictionary © Farlex 2012
References in periodicals archive ?
Biotechnology company REGENXBIO Inc (Nasdaq:RGNX) reported on Thursday the receipt of the US Food and Drug Administration's (FDA) Rare Pediatric Disease Designation for RGX-181 for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
REGENXBIO (RGNX) and Abeona Therapeutics (ABEO) announced a license agreement to REGENXBIO's NAV AAV9 vector for the treatment of four diseases: Sanfilippo syndrome type A, Sanfilippo syndrome type B, Infantile Batten Disease, also known as neuronal ceroid lipofuscinosis type 1, and Juvenile Batten Disease, also known as neuronal ceroid lipofuscinosis type 3.
The panel was prepared using a NimbleGen SeqCap EZ Choice kit (Roche, Basel, Switzerland), which included 927 disease-causative genes of the neurogenetic disease, containing progressive myoclonic epilepsy, hereditary ataxia, mitochondrial diseases, neuronal ceroid lipofuscinosis and other neurogenetic diseases.
58 children with neuronal ceroid lipofuscinosis showed much smaller NAA peaks and decreased values of the NAA/Cr ratios and elevated ml peak in 27 patients with biochemical genetic analysis.
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.
A fatal lysosomal storage disease of the nervous system caused by autosomal-recessive mutations in the CLN1 gene, also known as infantile neuronal ceroid lipofuscinosis (INCL), infantile Batten disease is an inherited fatal genetic disease that primarily affects the nervous system in newborns and progresses rapidly.
Interestingly, there was one patient who was diagnosed with neuronal ceroid lipofuscinosis (NCL), which is generally refractory to other AEDs; this patient showed significant improvement in seizure frequency as described below.
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.
TPP1 deficiency results in classic late infantile (type 2) neuronal ceroid lipofuscinosis (LINCL, also called Jansky-Bielschowsky disease) (9).
Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia 2000; 41:1296-1302.
[99] showed that the lack of CLN3 function leads to a failure to control the response to oxidative stress and this causes juvenile neuronal ceroid lipofuscinosis (also known as Batten disease), a disease characterized by neuronal degeneration.