: MeSH: Neuronal Ceroid-Lipofuscinoses

... > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Neuronal Ceroid-Lipofuscinoses

... > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Neuronal Ceroid-Lipofuscinoses

... > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Neuronal Ceroid-Lipofuscinoses

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Neuronal Ceroid-Lipofuscinoses

Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Neuronal Ceroid-Lipofuscinoses

Neuronal Ceroid-Lipofuscinoses

A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins.

http://data.loterre.fr/ark:/67375/JVR-PL3BJRBV-2

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