Publications by authors named "Yoshiyuki Mistui"
Article Synopsis
- A 31-year-old woman diagnosed with Alexander disease was found to have a specific mutation (V87L) in the GFAP gene, which is linked to the condition.
- She exhibited symptoms such as psychomotor regression, seizures, and issues with movement and bladder control, supported by MRI showing brain atrophy and abnormalities.
- Twenty months later, she experienced a fall resulting in head injury, and a CT scan revealed unusual brain calcifications, suggesting a possible new association with her GFAP mutation.
