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Article

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.

Neurology - 28 Aug 2001

Wisniewski K E, Zhong N, Philippart M

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCL) are a large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. Previously, diagnosis of NCL was based on age at onset and clinicopathologic (C-P) findings, classified as 1) infantile (INCL), 2) late infantile (LINCL), 3) juvenile (JNCL), and 4) adult (ANCL). Most patients with NCL have progressive...

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Identifiers

PMID: 11548735
DOI: 10.1212/wnl.57.4.576

Genes

CLN8
CLN3
CLN5

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