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Article

A novel ABCA1 mutation in Tangier disease associated with severe premature and rapidly progressive neurodegenerative disorder.

Journal of clinical lipidology - 1 Jan 2025

Fornengo Paolo, Rinaudo Elisa, Amato Serena, Mattivi Simone, Deaglio Silvia

Abstract excerpt

Tangier disease (TD) is a rare inherited disorder of lipoprotein metabolism, characterized by low levels of high-density lipoprotein-cholesterol (HDL-c) and accumulation of cholesterol esters in various tissues. It is caused by mutations in the ATP binding cassette transporter A1 (ABCA1). Clinical presentation is highly variable. Polyneuropathy is an encountered clinical presentation, whereas neurocognitive...

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Identifiers

PMID: 41152125
DOI: 10.1016/j.jacl.2025.09.001

Genes

ABCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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