Affiliation:
1. Department of Neurology, Huashan Hospital, Fudan University
2. Department of Pathology, Huashan Hospital, Fudan University
Abstract
Abstract
ANXA11 mutations link to multisystem proteinopathy (MSP), typically affecting motor neurons. This report describes a 55-year-old man with a rare concurrent presentation of inclusion body myopathy (IBM), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD), alongside cardiac issues, confirmed by genetic testing as ANXA11-related MSP with a c.118G > T (p.D40Y) mutation. This case underscores ANXA11's broad impact and its critical role in MSP, highlighting unusual multisystem involvement including the cardiac system, thus expanding our understanding of ANXA11 mutation spectra.
Publisher
Research Square Platform LLC
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