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Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB

Lookup NU author(s): Dr Michael Keogh, Dr Angela Pyle, Daniyal Daud, Dr Helen GriffinORCiD, Dr Konstantinos Douroudis, Gail Eglon, Dr James Miller, Professor Rita HorvathORCiD, Professor Patrick Chinnery

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Abstract

Primary familial basal ganglia calcification (PFBC) (previously known as idiopathic basal ganglia calcification or Fahr disease) is an autosomal dominant neurodegenerative disorder characterized by bilateral cerebral calcification primarily affecting the basal ganglia. Recently, mutations in SLC20A2,(1)PDGFRB,(2) and PDGFB(3,4) have been identified as causing PFBC. However, other than the original study,(3) there has been a paucity of descriptions of families with PFBC.(5

Publication metadata

Author(s): Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2015

Volume: 84

Issue: 17

Pages: 1818-1820

Print publication date: 28/04/2015

Online publication date: 01/04/2015

Acceptance date: 15/12/2014

Date deposited: 30/06/2015

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1212/WNL.0000000000001517

DOI: 10.1212/WNL.0000000000001517

PubMed id: PMC4424129

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