• Internal medicine · Feb 2024

    Case Reports

    Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.

    • Yukiyo Yoshimoto, Shoko Yoshimoto, Kensuke Kakiuchi, Rumina Miyagawa, Shin Ota, Takafumi Hosokawa, Shimon Ishida, Yujiro Higuchi, Akihiro Hashiguchi, Hiroshi Takashima, and Shigeki Arawaka.
    • Division of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
    • Intern. Med. 2024 Feb 15; 63 (4): 571576571-576.

    AbstractX-linked Charcot-Marie-Tooth disease type 1 (CMTX1), the most common form of CMTX, is caused by gap-junction beta 1 (GJB1) mutations. We herein report a 25-year-old Japanese man with disorientation, right hemiparesis, and dysarthria. Brain magnetic resonance imaging (MRI) showed high signal intensities in the bilateral cerebral white matter on diffusion-weighted imaging. He had experienced 2 episodes of transient central nervous system symptoms (at 7 and 13 years old). A genetic analysis identified a novel GJB1 mutation, c.169C>T, p.Gln57*. MRI abnormalities shifted from the cerebral white matter to the corpus callosum and had disappeared at the five-month follow-up. Transient changes between these lesions may indicate CMTX1.

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