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August 2016; 2 (4) Clinical/Scientific NotesOpen Access

Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene

Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
First published July 6, 2016, DOI: https://doi.org/10.1212/NXG.0000000000000084
Martin Paucar
From the Department 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.
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Håkan Almqvist
From the Department 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.
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Ahmed Saeed
From the Department 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.
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Gösta Bergendal
From the Department 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.
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Jan Ygge
From the Department 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.
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Staffan Holmin
From the Department 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.
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Ingemar Björkhem
From the Department 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.
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Per Svenningsson
From the Department 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.
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Citation
Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
Neurol Genet Aug 2016, 2 (4) e84; DOI: 10.1212/NXG.0000000000000084

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    Figure 1 Progressive calcifications in a family with the L9R mutation in the PDGFB gene

    Density progression, as measured by change in Hounsfield units (HU), of calcifications in cerebellum, thalamus, basal ganglia, and frontal white matter in patient III:1. To the left axial (A.a and B.a) and sagittal sections (C.a) from the first CT scan done in 2009 and to the right sections performed in 2014 (A.b, B.b, and C.b). The sagittal sections display the right hemispheres of the brain and cerebellum (C.a and C.b). According to the TCS method, using the axial image could score the white matter changes as “moderate” but seem to be “severe” in the sagittal image. In the white matter (B.a and B.b), the HU increased by 142% or 124 HU, but the TCS remained unchanged at 3 points. In the lentiform nucleus (B.a and B.b), the HU increased by 29% or 70 HU, but the TCS remained also unchanged at 5 points. In the thalamus (B.a and B.b), the HU increased by 22% or 11 HU, but the TCS increased from 2 to 3 points. In the cerebellum (A.a and A.b), the HU increased by 44% or 17 HU and also increased in TCS from 2 to 3 points (for more details see table e-8).

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