1. Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.
- Author
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Yoshimoto Y, Yoshimoto S, Kakiuchi K, Miyagawa R, Ota S, Hosokawa T, Ishida S, Higuchi Y, Hashiguchi A, Takashima H, and Arawaka S
- Subjects
- Male, Humans, Child, Adolescent, Adult, Connexins genetics, Gap Junction beta-1 Protein, Mutation genetics, Charcot-Marie-Tooth Disease genetics, Charcot-Marie-Tooth Disease diagnosis, White Matter pathology, Genetic Diseases, X-Linked
- Abstract
X-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.
- Published
- 2024
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