A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation
oleh: Marco Ceccanti, Chiara Cambieri, Vittorio Frasca, Emanuela Onesti, Antonella Biasotta, Carla Giordano, Sabina Maria Bruno, Giancarlo Testino, Marco Lucarelli, Marcello Arca, Maurizio Inghilleri
| Format: | Article |
|---|---|
| Diterbitkan: | Frontiers Media S.A. 2016-11-01 |
Deskripsi
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.