White matter involvement in a family with a novel PDGFB mutation

Roberta Biancheri; Mariasavina Severino; Angela Robbiano; Michele Iacomino; Massimo Del Sette; Carlo Minetti; Mariarosaria Cervasio; Marialaura Del Basso De Caro; Pasquale Striano; Federico Zara

doi:10.1212/NXG.0000000000000077

White matter involvement in a family with a novel PDGFB mutation

Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun.

Affiliation

¹ Dubowitz Neuromuscular Service (R.B.), UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom; Unit of Neuroradiology (M.S.), Laboratorio di Neurogenetica e Neuroscienze (A.R., M.I., F.Z.), "G. Gaslini" Institute, Genova, Italy; Neurology Unit (M.D.S.), E.O. Galliera Hospital, Genova, Italy; Pediatric Neurology and Muscular Diseases Unit (C.M.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Advanced Biomedical Sciences (M.C., M.D.B.D.C.), Federico II University, Naples, Italy.

Abstract

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).