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Juvenile Neuronal Ceroid Lipofuscinoses
, 2012 Juvenile neuronal ceroid lipofuscinoses (JNCL) is the most common type of the neuronal ceroid lipofuscinoses (NCLs), a group of pediatric neurodegenerative diseases. In this chapter the genetic and biochemical basis, pathogenesis, clinical features, histopathological features, diagnosis and therapeutic strategies of the JNCL are reviewed. The premature
Wang Shiyao, Shiyao Wang
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Progress in Neuropathology of the Neuronal Ceroid Lipofuscinoses
Molecular Genetics and Metabolism, 1999Since the last, 6th, International Congress on Neuronal Ceroid-Lipofuscinoses, neuropathological advances in neuronal ceroid lipofuscinoses (NCL) have been made in several areas: (1) In adult NCL (ANCL) lipopigments have now been repeatedly confirmed to contain subunit c of mitochondrial ATP synthase and even sphingolipid activators (saposins).
Sydney S Schochet +2 more
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Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
Seminars in Ophthalmology, 2021 Neuronal ceroid lipofuscinoses (NCLs) are a group of rare neurodegenerative storage disorders associated with devastating visual prognosis, with an incidence of 1/1,000,000 in the United States and comparatively higher incidence in European countries ...
Rohan Bir Singh +2 more
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Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2015 Studies on naturally occurring New Zealand and Australian ovine models of the neuronal ceroid-lipofuscinoses (Batten disease, NCLs) have greatly aided our understanding of these diseases.
David N Palmer +2 more
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Neuronal ceroid lipofuscinoses therapeutic strategies: Past, present and future
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2006 Historically, many different therapies have been assessed for their ability to alter disease progression of the Neuronal Ceroid Lipofuscinoses (NCLs).
Glyn Dawson
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Neuronal ceroid lipofuscinoses
Epileptic Disorders, 2016Abstract The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here
Dragos A, Nita +2 more
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Genetics of the neuronal ceroid lipofuscinoses
Current Opinion in Genetics & Development, 2000The neuronal ceroid lipofuscinoses (NCLs) are an intriguing group of inherited neurodegenerative disorders characterized by blindness, progressive psychomotor deterioration and death of neocortical neurons. Clinically, four major NCL groups have been identified: infantile, late infantile, juvenile and adult.
L, Peltonen, M, Savukoski, J, Vesa
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Neuronal ceroid lipofuscinoses in childhood
Neurological Sciences, 2000NCL disorders are progressive brain diseases with an autosomal recessive inheritance in all eleven childhood types. These occur world-wide but may be enriched in some countries. In Finland altogether about 400 patients have been diagnosed during the last forty years.
P, Santavuori +5 more
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The neuronal ceroid-lipofuscinoses: From past to present
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2006 The neuronal ceroid-lipofuscinoses (NCLs) are inherited lysosomal storage diseases and constitute the most common group of children's progressive encephalopathies.
M Haltia
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