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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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Neuronal ceroid lipofuscinoses

2013
Neuronal ceroid lipofuscinoses (NCL) represent a group of autosomal recessive neurodegenerative disorders, presenting with myoclonic epilepsy, psychomotor delay, progressive loss of vision, and early death. Four main clinical forms have been delineated (infantile, late infantile, juvenile, and adult), but many other variants have also been described ...
Brigitte, Chabrol, Catherine, Caillaud, Berge, Minassian   +2 more
openaire   +2 more sources

The neuronal ceroid-lipofuscinoses

Seminars in Pediatric Neurology, 1996
The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been found to represent different genetic entities, ie, infantile (INCL) or CLN1, late-infantile ...
openaire   +3 more sources

The neuronal ceroid lipofuscinoses.

Journal of child neurology, 1989
The neuronal ceroid lipofuscinoses are clinical disorders associated with the accumulation of autofluorescent waxy pigments within cells of several different tissues. Such syndromes always have neurological manifestations. Variations in clinical course, genetics, pathogenesis, and possibly treatment occur in each of the several forms listed under this ...
Paul Richard Dyken, John M. Opitz, James F. Reynolds, Raju K. Pullarkat   +3 more
openaire   +4 more sources

Neuronal ceroid-lipofuscinoses in childhood

Brain and Development, 1988
Neuronal Childhood types of ceroid-lipofuscinoses (NCL) are reviewed. All three main types, infantile, late infantile and juvenile, are progressive encephalopathies characterized by neural and extraneural accumulation of ceroid- and lipofuscin like storage cytosomes. The pathogenesis of NCL is unknown.
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Molecular Genetics of the Neuronal Ceroid Lipofuscinoses

Epilepsia, 1999
Summary:The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent storage material in neurons and other cell types. The clinical features include visual impairment, progressive myoclonic epilepsy, and cognitive decline reflecting progressive neurodegeneration. The
S, Mole, M, Gardiner
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Childhood neuronal ceroid‐lipofuscinoses in Argentina

American Journal of Medical Genetics, 1995
AbstractWe report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985–1993 in Argentina, whose population is predominantly of European descent. Twenty‐four cases were late infantile Jansky‐Bielschowsky (LINCL) and 6 were juvenile Spielmeyer‐Vogt (JNCL). Sex ratio was female: male, 20:10.
A L, Taratuto, M, Saccoliti, G, Sevlever, V, Ruggieri, H, Arroyo, M, Herrero, M, Massaro, N, Fejerman   +7 more
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Neuronal Ceroid-Lipofuscinoses

2007
Neuronal ceroid-lipofuscinoses (NCLs, also referred to as Battens disease) are inherited lysosomal storage diseases characterized by progressive neurodegeneration and premature death. As a group, the NCLs compose the most common reason for children’s progressive encephalopathy, and their incidence in the Northern Europe and US has been estimated to be ...
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Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses

Acta Neuropathologica, 2006
Neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative diseases and autosomal recessive lysosomal storage disorders. We examined the involvement of cell death, oxidative stress, and glutamate excitotoxicity using immunohistochemistry against Bcl-2, Bcl-x, oxidative products to proteins, lipids and DNA, calcium-binding proteins (calbindin-
Yasuo, Hachiya, Masaharu, Hayashi, Satoko, Kumada, Akira, Uchiyama, Kuniaki, Tsuchiya, Kiyoko, Kurata   +5 more
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Neuronal Ceroid Lipofuscinoses

1995
The neuronal ceroid lipofuscinoses (NCL), often called Batten disease, constitute a group of progressive neurodegenerative disorders either with an autosomal recessive mode of inheritance in infants, children and adults or, in rare instances, with an autosomal dominant mode of inheritance in adults.
Marjo S. van der Knaap, Jacob Valk
openaire   +1 more source