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Article

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.

Biochimica et biophysica acta - 1 Oct 2006

Houweling Peter J, Cavanagh Julie A L, Palmer David N, Frugier Tony, Mitchell Nadia L, Windsor Peter A, Raadsma Herman W, Tammen Imke

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are recessively inherited neurodegenerative disorders that affect humans and other animals, characterised by brain atrophy and the accumulation of lysosome derived fluorescent storage bodies in neurons and most other cells. Common clinical signs include blindness, ataxia, dementia, seizures and premature death. The associated genes for six different human...

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Source

Identifiers

PMID: 16935476
DOI: 10.1016/j.bbadis.2006.07.008

Genes

CLN5
NCL
CLN3
CLN6
CLN8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.PMID 16935476Read ↗

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.Semantic proximity Read ↗

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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The genetic spectrum of human neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosisSemantic proximity Read ↗

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestrySemantic proximity Read ↗

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Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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