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Article

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Human molecular genetics - 1 Nov 2013

Bauer Peter, Balding David J, Klünemann Hans H, Linden David E J, Ory Daniel S, Pineda Mercè, Priller Josef, Sedel Frederic, Muller Audrey, Chadha-Boreham Harbajan, Welford Richard W D, Strasser Daniel S, Patterson Marc C

Abstract excerpt

Niemann-Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease caused by mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene. This observational, multicentre genetic screening study evaluated the frequency and phenotypes of NP-C in consecutive adult patients with neurological and psychiatric symptoms. Diagnostic testing for NP-C involved NPC1 and NPC2 exonic...

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Open in PubMed Open full text

Identifiers

PMID: 23773996
DOI: 10.1093/hmg/ddt284
PMCID: PMC3792693

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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