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Ann Clin Transl Neurol . Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

tetano

Editor, Senior Moderator
Ann Clin Transl Neurol


. 2025 Nov 5.
doi: 10.1002/acn3.70242. Online ahead of print. Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Jinghan Hu[SUP] 1 2 [/SUP], Leiyun Huang[SUP] 3 [/SUP], Wan Zhu[SUP] 1 [/SUP], Min Peng[SUP] 1 [/SUP], Qiang Gong[SUP] 4 [/SUP], Jing Qian[SUP] 5 [/SUP]



Affiliations
Free article 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.

Keywords: MMERV; MYRF; influenza A virus; leukoencephalopathy; stroke‐mimic encephalitis.

 
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