ANXA11-related multisystem proteinopathy with inclusion body myopathy, ALS and FTD: A case report

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.