neuronal ceroid lipofuscinosis

(redirected from Lipofuscinoses)

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.
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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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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.
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References in periodicals archive ?
Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs.
The respective disease-causative genes are as follows: CSTB , PRICKLE1 , MELF , NHLRC1 , KCTD7 , SCARB2 , PRICKLE2 , GOSR2 , KCNC1 , CERS1 , LMNB2 , and PRDM8 .[1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13] However, there are other neurogenetic diseases mainly characterized by myoclonus, epileptic seizures, and ataxia, such as myoclonus epilepsy and ragged red fibers, neuronal ceroid lipofuscinoses, sialidosis, dentatorubral-pallidoluysian atrophy (DRPLA), and neuronopathic Gaucher disease, while a literature also regarded these diseases as PMEs.[1] In clinic, it is difficult to make an exact diagnosis among the various forms of PMEs due to homogeneous phenotypes.
"This EMA designation will clearly facilitate PLX-200 clinical development, which also was granted ODD for Neuronal Ceroid Lipofuscinoses from the FDA, last year.
Batten disease is commonly used to make reference to all forms of  Neuronal Ceroid Lipofuscinoses (NCL).
CLN2 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, a rare inherited disorder that primarily affects the nervous system.
Duncan et al., "Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses?" Metallomics, vol.
Kwon, "Classification and natural history of the neuronal ceroid lipofuscinoses," Journal of Child Neurology, vol.
Batten disease is considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs).
The cortex is involved in rare disorders like neuronal ceroid lipofuscinoses and Rett syndrome.