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Article

Familial Alzheimer's disease associated with heterozygous NPC1 mutation.

Journal of medical genetics - 21 Mar 2024

Lopergolo Diego, Bianchi Silvia, Gallus Gian Nicola, Locci Sara, Pucci Barbara, Leoni Valerio, Gasparini Daniele, Tardelli Elisa, Chincarini Andrea, Sestini Stelvio, Santorelli Filippo Maria, Zetterberg Henrik, De Stefano Nicola, Mignarri Andrea

Abstract excerpt

INTRODUCTION: NPC1 mutations are responsible for Niemann-Pick disease type C (NPC), a rare autosomal recessive neurodegenerative disease. Patients harbouring heterozygous NPC1 mutations may rarely show parkinsonism or dementia. Here, we describe for the first time a large family with an apparently autosomal dominant late-onset Alzheimer's disease (AD) harbouring a novel heterozygous NPC1 mutation. METHODS: All...

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Source

Identifiers

PMID: 37989569
DOI: 10.1136/jmg-2023-109219

Genes

NPC1
NPC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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