Results 151 to 160 of about 3,421 (195)

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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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
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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: research update

Neurological Sciences, 2000
This study describes the phenotype/genotype analysis of 159 probands with neuronal ceroid lipofuscinosis (37 CLN1, 72 classic CLN2, 10 variant LINCL, and 40 CLN3) collected at the New York State Institute for Basic Research in Developmental Disabilities (IBR).
K E, Wisniewski, E, Kida, F, Connell, N, Zhong   +3 more
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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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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, Prakash Gupta, Akash Kartik, Naba Farooqui, Sachi Singhal, Sukhman Shergill, Kanwar Partap Singh, Aniruddha Agarwal   +7 more
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Neuronal ceroid lipofuscinoses: a review

The Italian Journal of Neurological Sciences, 1998
Neuronal 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, CARDONA, Francesco Carmelo Giovanni   +1 more
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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
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CT Findings in Neuronal Ceroid Lipofuscinoses

Neuropediatrics, 1990
Forty patients suffering from neuronal ceroid lipofuscinosis, 33 of the juvenile type (JNCL) and 7 of the infantile type (INCL), underwent a brain CT. All INCL patients showed severe atrophic changes which were most pronounced supratentorially and in the brainstem.
R, Raininko, P, Santavuori, H, Heiskala, K, Sainio, J, Palo   +4 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
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