Biyajima Masahiro, Kobayashi Yuya, Nakafuji Kiyoshi, Watanabe Rie, Tazawa Koichi, Ishii Wataru, Satoh Shunichi, Hoshi Kenichi, Kurita Hisaka, Hozumi Isao, Yahikozawa Hiroyuki
Department of Neurology, Nagano Red Cross Hospital, Nagano, Japan.
Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.
eNeurologicalSci. 2022 May 20;27:100406. doi: 10.1016/j.ensci.2022.100406. eCollection 2022 Jun.
•This case indicates that the variant is associated with PFBC as well as with NMOSD.
•该病例表明,该变体与原发性家族性脑钙化症以及视神经脊髓炎谱系障碍相关。