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Lookup NU author(s): Dr Christopher Morris,
Professor Patrick Chinnery
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Neuroferritinopathy remains the only autosomal dominant syndrome of neurodegeneration with brain iron accumulation (NBIA). While the majority of identified cases appear to be part of an extended pedigree in the northeast of England, patients are increasingly being identified across the globe. Since its discovery in 2001, there have been significant developments in our understanding of the pathological, radiological, and clinical aspects of the condition, though several key pathomechanistic questions, and crucially treatment paradigms, remain unaddressed. This chapter summarizes the genetic etiology, pathological, radiological, and clinical data from all published data to date and suggested potential new avenues for therapy.
Author(s): Keogh MJ, Morris CM, Chinnery PF
Editor(s): Kailash P. Bhatia and Susanne A. Schneider
Publication type: Book Chapter
Publication status: Published
Book Title: Metal Related Neurodegenerative Disease
Print publication date: 01/01/2013
Publisher: Academic Press
Place Published: London
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