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

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

doi:10.1016/j.ensci.2022.100406

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

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

Affiliations

¹ Department of Neurology, Nagano Red Cross Hospital, Nagano, Japan.
² Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.

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.