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

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.
Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I.
Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.
Neuronal ceroid lipofuscinosis (NCL) is a fatal neurodegenerative disorder that afflicts infants and young children.
On 27 April 2017 the US Food and Drug Administration approved Brineura to slow the loss of ambulation in symptomatic pediatric patients three years of age and older with late infantile neuronal ceroid lipofuscinosis type 2, also known as tripeptidyl peptidase 1 deficiency.
In September 2009, StemCells announced the publication of preclinical data demonstrating the therapeutic potential of its HuCNS-SC([R]) product candidate (purified human neural stem cells) in neuronal ceroid lipofuscinosis (NCL), often referred to as Batten disease, a fatal neurodegenerative disorder in children.
Infantile neuronal ceroid lipofuscinosis (INCL; McKusick 256730) is a recessively inherited neurodegenerative disorder of infancy.
StemCells recently completed a Phase I clinical trial of its HuCNS-SC cells for the treatment of a Neuronal Ceroid Lipofuscinosis (NCL), a fatal brain disorder in children.
The Company's first clinical trial, a Phase I trial in neuronal ceroid lipofuscinosis (NCL, also often referred to as Batten disease) which was completed in January 2009, demonstrated a favorable safety profile along with evidence of engraftment and long-term survival of the HuCNS-SC cells.
NASDAQ:STEM) today announced the publication of preclinical data demonstrating for the first time that transplantation of its proprietary, purified human neural stem cells delays the loss of motor function in a mouse model of infantile neuronal ceroid lipofuscinosis (NCL).
In June 2009, StemCells announced positive results from a Phase I clinical trial of its HuCNS-SC product candidate (purified human neural stem cells) in infantile and late infantile neuronal ceroid lipofuscinosis (NCL), often referred to as Batten disease.
Six patients with advanced stages of infantile and late infantile neuronal ceroid lipofuscinosis (NCL), often referred to as Batten disease, were transplanted with HuCNS-SC cells and followed for 12 months.

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