neuronal ceroid lipofuscinosis


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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.

neuronal ceroid lipofuscinosis

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

neuronal ceroid lipofuscinosis

(nū-rŏn′ĭl),

NCL

One of several mostly autosomal recessive neurodegenerative disorders, characterized by regression of previously attained development, visual impairment, seizures, dementia, and early death. The NCLs include Batten's disease, Kufs' disease, Jansky-Bielschowsky disease, Santavuori-Haltia disease, and Spielmeyer-Vogt disease. All of these illnesses are caused by enzyme deficiencies or anomalies that result in the excessive deposition of lipid-protein complexes in neuronal tissues.
References in periodicals archive ?
Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog.
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997;277:1802-5.
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.
About Infantile Batten Disease: 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.
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.
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.
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Ann Neurol 1998;43:106-10.
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.
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.
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).

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