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Article

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Neuropediatrics - 1 Feb 1997

O'Rawe A, Mitchison H M, Williams R, Wheeler R, Andermann E, Andermann F, Hart Y M, Martin J J, Philippart M, Stephenson J B, Gardiner R M, Mole S E

Abstract excerpt

A number of variant forms of the neuronal ceroid lipofuscinoses (NCL) have been described and remain unmapped. The genes for infantile (CLN1), juvenile (CLN3) and Finnish-variant late-infantile (CLN5) have previously been mapped to chromosome regions 1p32, 16p12 and 13q21.1-32 respectively. The locus for a variant form of juvenile onset NCL characterised by cytosomal granular osmiophilic deposits (GROD) has been...

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Source

Identifiers

PMID: 9151314
DOI: 10.1055/s-2007-973659

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.

Related research

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Research trail→

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Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.PMID 9151314Read ↗

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.Semantic proximity Read ↗

A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.Semantic proximity Read ↗

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses: research update.Semantic proximity Read ↗

Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.Semantic proximity Read ↗

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

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

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.Semantic proximity Read ↗

Revelation of a Novel <i>CLN5</i> Mutation in Early Juvenile Neuronal Ceroid LipofuscinosisSemantic proximity Read ↗

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