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Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.

Molecular genetics and metabolism - 1 Jan 2000

Zhong N

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) consist of eight autosomal recessively inherited storage disorders characterized by lysosomal inclusions of autofluorescent lipofuscins and rapid neurodegenerative progression. The NCLs include eight forms that result from genetic deficiency on genes CLN(1) to CLN(8), respectively: four classic forms with clinical onset at varying ages-infantile (INCL), late-infantile...

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Identifiers

PMID: 11001811
DOI: 10.1006/mgme.2000.3057

Genes

NCL

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Source receipt: pubmed, retrieved 7 Sept 2026.

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