title: A Novel Mutation inABCA1Gene 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.
authors.affiliation: Department of Neurology and Psychiatry, Sapienza University , Rome , Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Ceccanti
authors.affiliation: Department of Radiological, Oncological and Anatomo-Pathological Sciences, Sapienza University , Rome , Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Cambieri
authors.affiliation: Department of Neurology and Psychiatry, Sapienza University , Rome , Italy.
authors.forename: Vittorio
authors.initials: V
authors.lastname: Frasca
authors.affiliation: Department of Neurology and Psychiatry, Sapienza University , Rome , Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Onesti
authors.affiliation: Department of Radiological, Oncological and Anatomo-Pathological Sciences, Sapienza University , Rome , Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Biasiotta
authors.affiliation: Department of Radiological, Oncological and Anatomo-Pathological Sciences, Sapienza University , Rome , Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Giordano
authors.affiliation: Department of Cellular Biotechnologies and Hematology, Sapienza University , Rome , Italy.
authors.forename: Sabina M
authors.initials: SM
authors.lastname: Bruno
authors.affiliation: Department of Cellular Biotechnologies and Hematology, Sapienza University , Rome , Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Testino
authors.affiliation: Department of Cellular Biotechnologies and Hematology, Sapienza University, Rome, Italy; Pasteur Institute, Cenci Bolognetti Foundation, Sapienza University, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Lucarelli
authors.affiliation: Department of Internal Medicine and Medical Specialties, Sapienza University , Rome , Italy.
authors.forename: Marcello
authors.initials: M
authors.lastname: Arca
authors.affiliation: Department of Neurology and Psychiatry, Sapienza University , Rome , Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Inghilleri
keywords: Tangier; demyelinating; hypoalphalipoproteinemia; neuropathy