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Updated: Dec 10, 2025
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Unilateral diffuse white matter involvement in a patient with atypical FMR1 mutation
Kang Min Park1, Kyung Ran Jun2, Ho-Joon Lee3
1Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
This case report details a patient with seizures and unilateral brain white matter abnormalities. Genetic analysis revealed a pathogenic FMR1 gene variant, highlighting a novel presentation of Fragile X-associated disorders.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Seizures can be indicative of underlying neurological conditions.
- Fragile X messenger ribonucleprotein (FMR1) gene mutations are typically associated with intellectual disability and developmental disorders.
- Cerebral white matter abnormalities can result from various genetic and acquired conditions.
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