Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

Aceruloplasminemia (ACP) is a rare, adult-onset, autosomal recessive disorder, characterized by systemic iron overload due to mutations in the Ceruloplasmin gene (CP), which in turn lead to absence or strong reduction of CP activity. CP is a ferroxidase that plays a key role in iron export from vari...

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Bibliographic Details
Main Authors: Giacomo Marchi, Fabiana Busti, Acaynne Lira Zidanes, Annalisa Castagna, Domenico Girelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Neuroscience
Subjects:
iron metabolism
iron overload disease
neurodegeneration with brain iron accumulation
rare anemias
Aceruloplasminemia
Online Access:https://www.frontiersin.org/article/10.3389/fnins.2019.00325/full

Internet

https://www.frontiersin.org/article/10.3389/fnins.2019.00325/full

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