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SCP2 mutations and neurodegeneration with brain iron accumulation

Lookup NU author(s): Professor Rita HorvathORCiD, Dr David Lewis-Smith, Dr Konstantinos Douroudis, Dr Jennifer Duff, Dr Michael Keogh, Dr Angela Pyle, Professor Patrick Chinnery

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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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Abstract

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.

Publication metadata

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

Journal: Neurology

Year: 2015

Volume: 85

Issue: 21

Pages: 1909-1911

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.

URL: .http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000002157

DOI: 10.1212/WNL.0000000000002157

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