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Article

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PloS one - 1 Jan 2013

Zech Michael, Nübling Georg, Castrop Florian, Jochim Angela, Schulte Eva C, Mollenhauer Brit, Lichtner Peter, Peters Annette, Gieger Christian, Marquardt Thorsten, Vanier Marie T, Latour Philippe, Klünemann Hans, Trenkwalder Claudia, Diehl-Schmid Janine, Perneczky Robert, Meitinger Thomas, Oexle Konrad, Haslinger Bernhard, Lorenzl Stefan, Winkelmann Juliane

Abstract excerpt

Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are likely underdiagnosed. Pathophysiologically, genetic alterations compromising the endosomal/lysosomal system are linked...

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Source

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Identifiers

PMID: 24386122
DOI: 10.1371/journal.pone.0082879
PMCID: PMC3875432

Genes

NPC1
NPC2

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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