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. 2017 Sep 21;7:12046. doi: 10.1038/s41598-017-11595-1

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Pedigrees of Family 1 (a) and Family 2 (b). Squares: males; circles: females. The arrowheads denote the probands. The filled symbols represent the subjects with calcinosis. Asterisks represent individuals who are included in this study. Brain computed tomography (CT) images demonstrating brain calcinosis in patients of this study with genetically confirmed primary familial brain calcification (c–h). (c) the proband’s mother of Family 1; (d) the proband of Family 1; (e) the proband’s affected son; (f) the proband of Family 2; (g) the proband’s son of Family 2; (h) sporadic case 1. ¹²³I-metaiodobenzylguanidine scintigraphy in the proband of Family 1 (i), the proband of Family 2 (j), and the proband’s son of Family 2 (k). Dopamine transporter single photon emission computed tomography (SPECT) using ¹²³I-ioflupane (l–n) in the proband of Family 1 (l) and the proband of Family 2 (m) showing a decrease of striatal tracer uptake. In the proband’s son of Family 2, tracer uptake is normal (n). Brain 99mTc-ethyl cysteinate dimer SPECT in the proband of Family 2 (o) showing a hypoperfusion in the frontotemporal lobes with a left-side predominance.