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GTR Home > Conditions/Phenotypes > Neuronal ceroid lipofuscinosis 2

Summary

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CLN2, GIG1, LPIC, SCAR7, TPP-1, TPP1
    Summary: tripeptidyl peptidase 1

Clinical features

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