Work

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

Year: 2025

Type: 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.

Source: Annals of Clinical and Translational Neurology

DOI: 10.1002/acn3.70242

Authors: Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian

Institutions: Kunming University of Science and Technology, People’s Hospital of Wenshan Prefecture, Simcere Pharmaceutical (China), First People's Hospital of Yunnan Province

Language: English

Topic: Multiple Sclerosis Research Studies

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $4,100