A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation

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, demyel...

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Dades bibliogràfiques
Publicat a:Front Neurol
Autors principals: Ceccanti, Marco, Cambieri, Chiara, Frasca, Vittorio, Onesti, Emanuela, Biasiotta, Antonella, Giordano, Carla, Bruno, Sabina M., Testino, Giancarlo, Lucarelli, Marco, Arca, Marcello, Inghilleri, Maurizio
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2016
Matèries:
Neuroscience
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5089975/
https://ncbi.nlm.nih.gov/pubmed/27853448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2016.00185
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