Neuronal ceroid lipofuscinosis(NCL),also known as Batten disease,is the umbrella term for a group of neurodegenerative lysosomal storage disorders with onset mainly in childhood.The total 13 genetically distinct NCLs ...Neuronal ceroid lipofuscinosis(NCL),also known as Batten disease,is the umbrella term for a group of neurodegenerative lysosomal storage disorders with onset mainly in childhood.The total 13 genetically distinct NCLs are caused by mutations in genes encoding soluble or transmembrane proteins,and have been classified according to the affected gene into CLN1 to CLN8 and CLN10 to CLN14.Intracellular accumulation of autofluorescent storage material due to lysosomal dysfunction is a hallmark of all NCLs.展开更多
基金supported by the“Stiftung zur F?rderung der Universit?tsmedizin Hamburg”the“Ernst and Berta Grimmke Stiftung”(to UB)。
文摘Neuronal ceroid lipofuscinosis(NCL),also known as Batten disease,is the umbrella term for a group of neurodegenerative lysosomal storage disorders with onset mainly in childhood.The total 13 genetically distinct NCLs are caused by mutations in genes encoding soluble or transmembrane proteins,and have been classified according to the affected gene into CLN1 to CLN8 and CLN10 to CLN14.Intracellular accumulation of autofluorescent storage material due to lysosomal dysfunction is a hallmark of all NCLs.
