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Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
Martin Paucar1, Håkan Almqvist1, Ahmed Saeed1
1Department of Neurology (M.P., P.S.), Department of Neuroradiology (H.A., S.H.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., H.A., J.Y., S.H., P.S.), Division of Clinical Chemistry, Department of Laboratory Medicine (A.S., I.B.), Department of Neuroimaging (G.B.), Karolinska Institutet, Stockholm, Sweden; Department of Biochemistry (A.S.), Faculty of Medicine, University of Khartoum, Sudan; and St. Erik Eye Hospital (J.Y.), Stockholm, Sweden.
Abstract:
Primary familial brain calcifications (PFBC) are a heterogeneous group of rare autosomal dominant disorders. Mutations in the PDGFB gene are the second most common cause of PFBC. A model for PDGFB-associated PFBC, hypomorphic PDGFB (ret/ret) mouse, displays impaired blood-brain barrier (BBB), progressive brain calcifications and increased flux of the oxysterol 24S-hydroxycholesterol from the brain into the circulation.(1,2) Only 8 families and 2 sporadic cases with PDGFB mutations have been identified so far, one of them a Swedish-Finnish family previously described as F13.(1,3-6) Very little is known about the natural history of PDGFB-associated PFBC. Here, we provide a comprehensive long-term follow-up of the F13 family.
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