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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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Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
Seminars in Ophthalmology, 2021Neuronal 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 +7 more
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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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CT Findings in Neuronal Ceroid Lipofuscinoses
Neuropediatrics, 1990Forty 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 +4 more
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Towards understanding the neuronal ceroid lipofuscinoses
Brain and Development, 2009The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid ...
Alfried, Kohlschütter, Angela, Schulz
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Neuronal Ceroid Lipofuscinoses
1995The 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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Biochemical aspects of neuronal ceroid lipofuscinoses
Neurological Sciences, 2000The neuronal ceroid lipofuscinoses (NCLs) collectively constitute the most common group of progressive brain diseases in children. The childhood forms of NCL are recessively inherited monogenic diseases, resulting in progressive dementia and motor problems, epilepsy, blindness and, finally, early death.
J, Tyynelä, J, Suopanki
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Neuronal Ceroid-Lipofuscinoses
2007Neuronal 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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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 ...
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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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