Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is...

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Bibliographic Details
Main Authors: Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti, Celeste Panteghini, Barbara Garavaglia, Miryam Carecchio, Elia Antonio Emanuele, Gian L. Forni, Enrico Granieri
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-08-01
Series:Frontiers in Neurology
Subjects:
basal ganglia
NBIA disorders
beta-propeller protein-associated neurodegeneration
iron-chelating agents
iron
Online Access:http://journal.frontiersin.org/article/10.3389/fneur.2017.00385/full

Internet

http://journal.frontiersin.org/article/10.3389/fneur.2017.00385/full

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