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Case Reports
. 2015 Apr 28;84(17):1818-20.
doi: 10.1212/WNL.0000000000001517. Epub 2015 Apr 1.

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

Michael J Keogh  1 , Angela Pyle  1 , Daniyal Daud  1 , Helen Griffin  1 , Konstantinos Douroudis  1 , Gail Eglon  1 , James Miller  1 , Rita Horvath  1 , Patrick F Chinnery  2
Affiliations
Case Reports

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

Michael J Keogh et al. Neurology. .
No abstract available

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Figures

Figure
Figure. Neuroimaging features and genotype details of affected individuals
(A) CT and MRI scans of cases. (A.a) Case IV.4 (age 20 years): T2 MRI scan with no evidence of calcium deposition within the basal ganglia. (A.b) Case III.2 (age 36 years): CT scan showing calcium deposition in the caudate, lentiform nuclei, and thalamus. (A.c) Case III.5 (age 40 years): CT scan showing isolated subtle calcium deposition in the globus pallidus. (A.d) Case II.4 (age 66 years): T1 MRI showing calcification in the globus pallidus together with periventricular and pontine vascular white matter changes. (B) Pedigree of the family with the PDGFB p.P122L mutation. Black = affected individuals; clear = unaffected. (C) Details of the mutation found in affected individuals. MAF = minor allele frequency.
See this image and copyright information in PMC

References

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    1. Keller A, Westenberger A, Sobrido MJ, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013;45:1077–1082. - PubMed
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