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Article

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

Nature genetics - 1 Jul 1998

Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander E S, Peltonen L

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited neurodegenerative disorders of childhood, with an incidence of 1:12,500 live births. They are characterized by accumulation of autofluorescent lipopigments in various tissues. Several forms of NCLs have been identified, based on age at onset, progression of disease, neurophysiological and histopathological findings and...

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Source

Identifiers

PMID: 9662406
DOI: 10.1038/975

Genes

CLN5
NCL

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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Research trail→

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CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.PMID 9662406Read ↗

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.Semantic proximity Read ↗

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.Semantic proximity Read ↗

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).Semantic proximity Read ↗

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome SequencingSemantic proximity Read ↗

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.Semantic proximity Read ↗

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.Semantic proximity Read ↗

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.Semantic proximity Read ↗

Molecular genetics of the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.Semantic proximity Read ↗

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early agingSemantic proximity Read ↗

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).Semantic proximity Read ↗

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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