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Article

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Brain : a journal of neurology - 1 Jun 2006

Siintola Eija, Partanen Sanna, Strömme Petter, Haapanen Aleksi, Haltia Matti, Maehlen Jan, Lehesjoki Anna-Elina, Tyynelä Jaana

Abstract excerpt

Congenital neuronal ceroid-lipofuscinosis (NCL) is a devastating inherited neurodegenerative disorder of unknown metabolic basis. Eight patients with this rare disorder, all with similar clinical and neuropathological findings, have been reported, and here we describe two further patients. Previously, we showed that a mutation in the cathepsin D gene causes congenital NCL in sheep. On the basis of the...

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Identifiers

PMID: 16670177
DOI: 10.1093/brain/awl107

Genes

NCL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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