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Late-Onset Rapidly Progressive Spastic Paraplegia with Extensive White Matter Abnormalities Associated with an MFN2
Jiwon Yang1, Hyeon-Mi Park1, Yeong-Bae Lee1
1Department of Neurology, Gil Medical Center, Gachon University College of Medicine, Incheon 21565, Republic of Korea.
Mitofusin-2 (MFN2) gene variants can cause a rare, rapidly progressing form of spastic paraplegia. This case highlights MFN2 variants in patients with late-onset spasticity and brain white matter abnormalities.
Area of Science:
- Neurogenetics
- Neurology
- Molecular Medicine
Background:
- Mitofusin-2 (MFN2) variants are a known cause of Charcot-Marie-Tooth disease type 2A.
- Central nervous system (CNS) involvement is increasingly recognized in a subset of patients with MFN2 variants.
- Hereditary spastic paraplegia (HSP) encompasses a group of neurological disorders characterized by progressive lower-body weakness and spasticity.
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