Persistent Leukoencephalopathy Following <scp>H</scp> 1 <scp>N</scp> 1 Infection Associated With a Novel <scp>MYRF</scp> Variant (p. <scp>G</scp> ly735 <scp>A</scp> sp)

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.

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Publication Details

Journal
Annals of Clinical and Translational Neurology
Published
2025-11-05
DOI
https://doi.org/10.1002/acn3.70242
Primary Topic
Neurogenesis and neuroplasticity mechanisms
Type
article
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article

Persistent Leukoencephalopathy Following H 1 N 1 Infection Associated With a Novel MYRF Variant (p. G ly735 A sp)

Qiang Gong, Min Peng, Jinghan Hu, Leiyun Huang et al.
Annals of Clinical and Translational Neurology
Neurogenesis and neuroplasticity mechanisms
article

Persistent Leukoencephalopathy Following H 1 N 1 Infection Associated With a Novel MYRF Variant (p. G ly735 A sp)

Qiang Gong, Min Peng, Jinghan Hu, Leiyun Huang, Jing Qian, Wan Zhu
article en

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.

Annals of Clinical and Translational NeurologyVol. 13(2)
Kunming University of Science and Technology (CN), Kunming University (CN), Kunming Medical University (CN), Second Affiliated Hospital of Kunming Medical College (CN), First People's Hospital of Yunnan Province (CN), People’s Hospital of Wenshan Prefecture (CN), Simcere Pharmaceutical (China) (CN)
Openalex Percentile: Top 63%
Neurogenesis and neuroplasticity mechanisms
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Persistent Leukoencephalopathy Following <scp>H</scp> 1 <scp>N</scp> 1 Infection Associated With a Novel <scp>MYRF</scp> Variant (p. <scp>G</scp> ly735 <scp>A</scp> sp) — Qiang Gong, Min Peng, et al. · Annals of Clinical and Translational Neurology (2025) | TGRS Research Map | TGRS