Frontiers in Neurology (Nov 2016)

A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

  • Marco Ceccanti,
  • Chiara Cambieri,
  • Vittorio Frasca,
  • Emanuela Onesti,
  • Antonella Biasotta,
  • Carla Giordano,
  • Sabina Maria Bruno,
  • Giancarlo Testino,
  • Marco Lucarelli,
  • Marcello Arca,
  • Maurizio Inghilleri

DOI
https://doi.org/10.3389/fneur.2016.00185
Journal volume & issue
Vol. 7

Abstract

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Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* 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.

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