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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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The Neuronal Ceroid Lipofuscinoses
2010Sara Mole, Ruth E Williams, Mole Sara E
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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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Neuronal ceroid lipofuscinoses
2013Neuronal 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 +2 more
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Neuronal ceroid lipofuscinoses: a review
The Italian Journal of Neurological Sciences, 1998Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The main symptoms are psychomotor deterioration, visual failure, epilepsy and motor disturbances. The NCLs are morphologically characterized by the accumulation of lipopigments within numerous cell types and loss of ...
NARDOCCI N +1 more
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The neuronal ceroid-lipofuscinoses
Seminars in Pediatric Neurology, 1996The 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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The neuronal ceroid lipofuscinoses.
Journal of child neurology, 1989The 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 +3 more
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Neuronal ceroid-lipofuscinoses in childhood
Brain and Development, 1988Neuronal 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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Juvenile Neuronal Ceroid Lipofuscinoses
2012Juvenile 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
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