AUTHOR=Ceccanti Marco , Cambieri Chiara , Frasca Vittorio , Onesti Emanuela , Biasiotta Antonella , Giordano Carla , Bruno Sabina M. , Testino Giancarlo , Lucarelli Marco , Arca Marcello , Inghilleri Maurizio TITLE=A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation JOURNAL=Frontiers in Neurology VOLUME=7 YEAR=2016 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2016.00185 DOI=10.3389/fneur.2016.00185 ISSN=1664-2295 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.