White matter involvement in a family with a novel PDGFB mutation.
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ABSTRACT:
SUBMITTER: Biancheri R
PROVIDER: S-EPMC4867655 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
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White matter involvement in a family with a novel PDGFB mutation.
Biancheri Roberta R Severino Mariasavina M Robbiano Angela A Iacomino Michele M Del Sette Massimo M Minetti Carlo C Cervasio Mariarosaria M Del Basso De Caro Marialaura M Striano Pasquale P Zara Federico F
Neurology. Genetics 20160505 3
Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5). ...[more]
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