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. 2022 May 20:27:100406.
doi: 10.1016/j.ensci.2022.100406. eCollection 2022 Jun.

Seronegative neuromyelitis optica spectrum disorder in primary familial brain calcification with PDGFB variant

Masahiro Biyajima  1 , Yuya Kobayashi  1 , Kiyoshi Nakafuji  1 , Rie Watanabe  1 , Koichi Tazawa  1 , Wataru Ishii  1 , Shunichi Satoh  1 , Kenichi Hoshi  1 , Hisaka Kurita  2 , Isao Hozumi  2 , Hiroyuki Yahikozawa  1
Affiliations

Seronegative neuromyelitis optica spectrum disorder in primary familial brain calcification with PDGFB variant

Masahiro Biyajima et al. eNeurologicalSci. .

Erratum in

Abstract

•This case indicates that the PDGFB variant is associated with PFBC as well as with NMOSD.

Keywords: Blood-brain barrier; Fahr disease; Neuromyelitis optica spectrum disorder; Platelet-derived growth factor subunit B (PDGFB); Primary familial brain calcification.

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Figures

Fig. 1
Fig. 1
Findings of head CT and MRI and spinal cord MRI. (A) The CT shows bilateral symmetrical calcification of the basal ganglia and thalamus. (B) T2-weighted image shows a high-intensity lesion in the area postrema (arrowhead). (C) T2-weighted image shows high-intensity lesions in the area postrema (arrowhead) and at the level of C3 (arrow). (D) T2-weighted image shows high-intensity lesions at the level of T5 and T8 (arrows).
See this image and copyright information in PMC

References

    1. Tadic V., Westenberger A., Domingo A., Alvarez-Fischer D., Klein C., Kasten M. Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol. 2015;72:460–467. doi: 10.1001/jamaneurol.2014.3889. - DOI - PubMed
    1. Dalkara T., Alarcon-Martinez L. Cerebral microvascular pericytes and neurogliovascular signaling in health and disease. Brain Res. 2015;1623:3–17. doi: 10.1016/j.brainres.2015.03.047. - DOI - PubMed
    1. Keller A., Westenberger A., Sobrido M.J., García-Murias M., Domingo A., Sears R.L., Lemos R.R., Ordoñez-Ugalde A., Nicolas G., da Cunha J.E., Rushing E.J., Hugelshofer M., Wurnig M.C., Kaech A., Reimann R., Lohmann K., Dobričić V., Carracedo A., Petrović I., Miyasaki J.M., Abakumova I., Mäe M.A., Raschperger E., Zatz M., Zschiedrich K., Klepper J., Spiteri E., Prieto J.M., Navas I., Preuss M., Dering C., Janković M., Paucar M., Svenningsson P., Saliminejad K., Khorshid H.R., Novaković I., Aguzzi A., Boss A., Le Ber I., Defer G., Hannequin D., Kostić V.S., Campion D., Geschwind D.H., Coppola G., Betsholtz C., Klein C., Oliveira J.R. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013;45:1077–1082. doi: 10.1038/ng.2723. - DOI - PubMed
    1. Nahar K., Lebouvier T., Andaloussi Mäe M., Konzer A., Bergquist J., Zarb Y., Johansson B., Betsholtz C., Vanlandewijck M. Astrocyte-microglial association and matrix composition are common events in the natural history of primary familial brain calcification. Brain Pathol. 2020;30:446–464. doi: 10.1111/bpa.12787. - DOI - PMC - PubMed
    1. Kakita A., Suzuki A., Nishiwaki K., Ono Y., Kotake M., Ariyoshi Y., Miura Y., Ltoh M., Oiso Y. Stimulation of Na-dependent phosphate transport by platelet-derived growth factor in rat aortic smooth muscle cells. Atherosclerosis. 2004;174:17–24. doi: 10.1016/j.atherosclerosis.2003.12.039. - DOI - PubMed

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