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Article

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

PloS one - 1 Jan 2012

Velinov Milen, Dolzhanskaya Natalia, Gonzalez Michael, Powell Eric, Konidari Ioanna, Hulme William, Staropoli John F, Xin Winnie, Wen Guang Y, Barone Rosemary, Coppel Scott H, Sims Katherine, Brown W Ted, Züchner Stephan

Abstract excerpt

BACKGROUND: The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative genetic disorders. Kufs disease, an adult-onset form of NCL may be recessively or dominantly inherited. Our study aimed to identify genetic mutations associated with autosomal dominant Kufs disease (ADKD). METHODOLOGY AND PRINCIPAL FINDINGS: We have studied the family first reported with this phenotype in the...

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Identifiers

PMID: 22235333
DOI: 10.1371/journal.pone.0029729
PMCID: PMC3250487

Genes

DNAJC5
NCL
PRPF6

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.

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