neu·ro·nal ceroid lipofuscinosis

a group of diseases characterized by accumulation of abnormal pigments in tissue (previously classified as cerebral sphingolipidoses). Major subtypes include chronic juvenile form (Batten disease), slowly progressive behavior and visual symptoms, autosomal recessive inheritance; acute, late infantile form (Bielschowsky disease); autosomal recessive inheritance; chronic adult form (Kufs disease), variable inheritance; acute infantile form (Santavuori-Haltia disease), fulminating motor and mental deterioration often associated with myoclonic seizures. Minor forms have also been described.

Farlex Partner Medical Dictionary © Farlex 2012

neuronal ceroid lipofuscinosis

(sîr′oid′ lĭp′ō-fŭs′ĭ-nō′sĭs, -fyo͞o′sĭ-)

Any of a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual loss, and seizures, and by the accumulation of lipid-containing pigments within cells especially of the nervous system.

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References in periodicals archive

Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog.

Neuronal ceroid lipofuscinosis in a mallard duck (Anas platyrhynchos)

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases.

Late infantile neuronal ceroid lipofuscinosis: a case report/ Gec infantil noronal seroid lipofusinoz: bir olgu sunumu

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997;277:1802-5.

Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis

has been granted Orphan Drug Designation for PLX-200 for the treatment of neuronal ceroid lipofuscinosis (NCL) by the European Medicines Agency (EMA), the company said.

EMA Grants Polaryx Therapeutics Orphan Drug Designation for PLX-200 for Treatment of Neuronal Ceroid Lipofuscinosis

In April 2017, the company received the second voucher following approval of Brineura, a new biological product for patients with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency, a form of Batten disease.

BioMarin divests second USD125m priority review voucher

The proposed Phase I trial is designed to investigate the safety of HuCNS-SC in the treatment of infantile and late-infantile neuronal ceroid lipofuscinosis (NCL), the most severe forms of a group of disorders commonly referred to as Batten disease.

Stem Cells files IND with FDA for transplanting human neural brain stem cells

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Ann Neurol 1998;43:106-10.

Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays

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, CLN1 disease is an inherited genetic disease that primarily affects the nervous system in newborns and progresses rapidly.

Abeona Therapeutics' ABO-202 granted FDA Rare Pediatric Desease Designation

Biopharmaceuticals company BioMarin Pharmaceutical Inc (NasdaqGS:BMRN) said on Monday that it has dosed the first patient with BMN 190 for the treatment of neuronal ceroid lipofuscinosis type 2 (NCL-2) in the Phase 1/2 trial.

BioMarin Pharmaceutical Inc enrols first patient in Phase 1/2 trial of BMN 190 for Batten Disease

This is higher than the carrier frequency of the major mutations that cause aspartylglycosaminuria or infantile neuronal ceroid lipofuscinosis in the Finnish population (1:94-1:83 and 1:95, respectively) (13-15).

Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays