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KMID : 0894520090130020063
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Development & Reproduction
2009 Volume.13 No. 2 p.63 ~ p.77
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Genetic and Molecular Mechanisms in the Neuronal Ceroid-Lipofuscinoses
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Lee Min-young
Kim Dong-hyun
Yoon Dong-Ho
Kim Han-Bok
Park Joo-Hoon
Lee Hwan-Myoung
Kim Sung-Hoon
Kim Sung-Jo
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Abstract
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The neuronal ceroid-lipofuscinoses (NCLs) are a kind of neurodegenerative storage disorders. The NCLs are charecterizated by accumulation of autofluorescent lipofuscin or lipopigment in the brain. All NCL group belongs to in lysosomal storage disorders (LSDs), except Northern epilepsy. NCLs are the most common group of progressive neurodegenerative disorders in childhood, with an incidence as high as 1 in 12,500 live births. Four main clinical types have been described based on the onset age : infantile, late infantile, juvenile and adult types. Clinical symptoms of NCLs include loss of vision, seizures, epilepsy, progressive mental retardation and a premature death. Although mutation causes neurodegeneration in NCLs, the molecular mechanism by which mutation leads to neurodegeneration remains unclear. In this paper, we review the characteristics of these NCLs.
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KEYWORD
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Neuronal ceroid-lipofuscinoses, NCL, Neurodegeneration, Lysosomal storage disorders, Genetic disorder
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