Toggle Main Menu Toggle Search

Open Access padlockePrints

Neuroferritinopathy

Lookup NU author(s): Dr Christopher Morris, Professor Patrick Chinnery

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

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.


Publication metadata

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

Year: 2013

Volume: 110

Pages: 91-123

Print publication date: 01/01/2013

Publisher: Academic Press

Place Published: London

URL: http://dx.doi.org/10.1016/B978-0-12-410502-7.00006-5

DOI: 10.1016/B978-0-12-410502-7.00006-5

Library holdings: Search Newcastle University Library for this item

ISBN: 9780124105027


Actions

Link to this publication


Share