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Article

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

Prenatal diagnosis - 1 Jul 1999

Rapola J, Lähdetie J, Isosomppi J, Helminen P, Penttinen M, Järvelä I

Abstract excerpt

The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death. Neurons and several extraneural cells harbour lysosomal inclusions showing accumulation of material with histochemical characteristics of ceroid...

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Source

Identifiers

PMID: 10419622
DOI: 10.1002/(sici)1097-0223(199907)19:7<685::aid-pd603>3.0.co;2-f

Genes

CLN5
NCL
CLN3

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.

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Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).PMID 10419622Read ↗

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

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Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.Semantic proximity Read ↗

A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.Semantic proximity Read ↗

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

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

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.Semantic proximity Read ↗

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.Semantic proximity Read ↗

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