Results 111 to 120 of about 1,809 (153)

Neuronal ceroid lipofuscinoses

Epileptic Disorders, 2016
Abstract 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, Sara E, Mole, Berge A, Minassian   +2 more
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The Neuronal Ceroid Lipofuscinoses

2010
Sara Mole, Ruth E Williams, Mole Sara E
exaly   +2 more sources

The neuronal ceroid‐lipofuscinoses

Developmental Disabilities Research Reviews, 2013
The neuronal ceroid‐lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, which mostly present in childhood. The phenotypes are similar and include visual loss, seizures, loss of motor and cognitive function, and early death.
Michael J, Bennett, Dinesh, Rakheja
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Genetics of the neuronal ceroid lipofuscinoses

Current Opinion in Genetics & Development, 2000
The 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, 2000
NCL 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, L, Lauronen, E, Kirveskari, L, Aberg, K, Sainio, T, Autti   +5 more
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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.

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

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 ...
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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
openaire   +2 more sources