{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T14:51:33Z","timestamp":1783522293050,"version":"3.55.0"},"reference-count":32,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T00:00:00Z","timestamp":1664150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The Annexin A11 (<jats:italic>ANXA11<\/jats:italic>) gene has been newly identified as a causative gene of amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). The current study aimed to investigate the <jats:italic>ANXA11<\/jats:italic> mutations in a Chinese ALS\u2013FTD or FTD cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We included ten probands\/patients with suspected ALS\u2013FTD or FTD. Mutational analysis of <jats:italic>ANXA11<\/jats:italic> was performed through Next Generation Sequencing (NGS) and Sanger sequencing. We collected and reviewed clinical presentation, neuropsychology test results, brain-imaging findings, and electrophysiological examination findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, six probands presented with ALS\u2013FTD, and four with behavior variant FTD (bv-FTD). We identified a non-synonymous heterozygous mutation (c.119A&amp;gt;G, p.D40G) of <jats:italic>ANXA11<\/jats:italic> in proband 1, which is associated with ALS. However, this is the first report of the mutation causing ALS\u2013FTD. Proband 1 started with abnormal behavior and progressed to classic upper motor nervous disease. Magnetic resonance imaging (MRI) showed significant bilateral temporal lobe atrophy and bilateral hyperintensities along the corticospinal tracts.18F-AV45-PET imaging showed negative amyloid deposits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>ANXA11<\/jats:italic>-related diseases have high clinical and genetic heterogeneity. Our study confirmed the contribution of <jats:italic>ANXA11<\/jats:italic> mutations to ALS\u2013FTD. The <jats:italic>ANXA11<\/jats:italic> mutations established a complex genotype\u2013phenotype correlation in ALS\u2013FTD. Our research further elucidated the genetic mechanism of ALS\u2013FTD and contributed to setting the foundation of future targeted therapy.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2022.886887","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T13:44:45Z","timestamp":1664199885000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":24,"title":["ANXA11 mutations are associated with amyotrophic lateral sclerosis\u2013frontotemporal 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