Lookup NU author(s): Professor Rita Horvath,
Dr David Lewis-Smith,
Dr Konstantinos Douroudis,
Dr Jennifer Duff,
Dr Michael Keogh,
Dr Angela Pyle,
Professor Patrick Chinnery
This is the final published version of an article that has been published in its final definitive form by Lippincott Williams & Wilkins, Ltd., 2015.
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Mutations in PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17 cause neurodegeneration with brain iron accumulation (NBIA), but the genetic etiology remains undefined in many patients. We report the second patient with sterol carrier protein x (SCPx) deficiency presenting with adult-onset spinocerebellar ataxia and brain MRI characteristic of NBIA.
Author(s): Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF
Publication type: Article
Publication status: Published
Print publication date: 24/11/2015
Online publication date: 23/10/2015
Acceptance date: 21/07/2015
Date deposited: 26/02/2016
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins, Ltd.
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