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Published on: June 13, 2011
Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)
Jinghan Hu1,2, Leiyun Huang3, Wan Zhu1
1Department of Neurology, People's Hospital of Wenshan Prefecture, Affiliated Hospital, Kunming University of Science and Technology, Wenshan, Yunnan, China.
Abstract:
Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38-year-old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting with the known phenotype of MYRF-related mild encephalopathy with reversible myelin vacuolization (MMERV). Genetic analysis identified a novel MYRF variant (c.2204G>A, p.Gly735Asp) in its C-terminal domain, with familial cosegregation confirming autosomal dominant inheritance. This case demonstrates that viral infections can trigger severe MYRF-related pathology and establishes persistent leukoencephalopathy as a novel clinical phenotype within the MYRF disease spectrum.
Insights
A novel myelin regulatory factor (MYRF) gene variant caused severe leukoencephalopathy after influenza A infection. This expands the known spectrum of MYRF-related disorders, showing persistent white matter lesions.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Mutations in the myelin regulatory factor (MYRF) gene are associated with demyelinating disorders.
- The known phenotype of MYRF-related disorders includes mild encephalopathy with reversible myelin vacuolization (MMERV).
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