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Article

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.

Neuromolecular medicine - 1 Jan 2002

Weimer Jill M, Kriscenski-Perry Elizabeth, Elshatory Yasser, Pearce David A

Abstract excerpt

The neuronal ceroid-lipofuscinoses (NCL) are the most common group of progressive neurodegenerative diseases in children, with an incidence as high as one in 12,500 live births. The main features of this disease are failure of psychomotor development, impaired vision, seizures, and premature death. Many biochemical and physiological studies have been initiated to determine the cellular defect underlying the...

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Source

Identifiers

PMID: 12025857
DOI: 10.1385/NMM:1:2:111

Genes

CLN3
PPT1
TPP1
CLN5
CLN6
CLN8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.Semantic proximity Read ↗

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