Ontology highlight
ABSTRACT:
SUBMITTER: Ceccanti M
PROVIDER: S-EPMC5089975 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
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]