lipofuscinosis


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Translations

lip·o·fus·ci·no·sis

n. lipofuscinosis, almacenamiento anormal de cualquiera de los pigmentos adiposos.
References in periodicals archive ?
CLN1 disease, also known as Infantile Neuronal Ceroid Lipofuscinosis or infantile Batten disease, is a rapidly-progressing rare lysosomal storage disease with no approved treatment.
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.
One, cerliponase alfa (Brineura), is indicated for pediatric patients 3 years of age or older, for treatment of late infantile neuronal ceroid lipofuscinosis type 2.
Herpes simplex encephalitis (HSE), Pick's disease, Alzheimer's disease, cerebrovascular disease, head trauma, anoxic-ischemic encephalopathy, epilepsy, juvenile neuronal lipofuscinosis, Huntington's disease, acute intermittent porphyria, tuberculous meningitis, toxoplasmosis, and shigellosis are counted as the causes of KBS (4,5).
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.