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A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

ABSTRACT: Tangier disease is an autosomal recessive disorder characterized by severe reduction in high-density lipoprotein cholesterol and peripheral lipid storage. We describe a family with c.5094C?>?A p.Tyr1698* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy, and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea, and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

SUBMITTER: Ceccanti M

PROVIDER: S-EPMC5089975 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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A Novel Mutation in <i>ABCA1</i> Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

Ceccanti Marco M Cambieri Chiara C Frasca Vittorio V Onesti Emanuela E Biasiotta Antonella A Giordano Carla C Bruno Sabina M SM Testino Giancarlo G Lucarelli Marco M Arca Marcello M Inghilleri Maurizio M

Frontiers in neurology 20161102

Tangier disease is an autosomal recessive disorder characterized by severe reduction in high-density lipoprotein cholesterol and peripheral lipid storage. We describe a family with c.5094C > A p.Tyr1698* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy, and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, c ...[more]

PMID: 27853448

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