Alexander disease with a novel GFAP insertion-deletion mutation mimicking progressive supranuclear palsy

進行性核上性麻痺に類似した新規GFAP挿入/欠失変異を伴うアレキサンダー病

Shiina A, Ishikawa D, Ishizawa K, Kasahara H, Fujita Y, Mizuta I, Yoshida T, Ikeda Y.

Clin Neurol Neurosurg. 2024 May;240:108261. doi: 10.1016/j.clineuro.2024.108261. Epub 2024 Mar 27.