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- Title
ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.
- Authors
Yu Wang; Xiaohui Duan; Xiao Zhou; Renbin Wang; Xiangfei Zhang; Zhenhua Cao; Xiaoxia Wang; Zhi Zhou; Yu Sun; Dantao Peng
- Abstract
Background: The Annexin A11 (ANXA11) 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 ANXA11 mutations in a Chinese ALS-FTD or FTD cohort. Methods: We included ten probands/patients with suspected ALS-FTD or FTD. Mutational analysis of ANXA11 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. Results: In total, six probands presented with ALS-FTD, and four with behavior variant FTD(bv-FTD). We identified a non-synonymous heterozygousmutation (c.119A>G, p.D40G) of ANXA11 in proband 1, which is associated with ALS. However, this is the first report of the mutation causing ALS-FTD. Proband 1 started with abnormal behavior and progressed to classic uppermotor 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. Conclusion: ANXA11-related diseases have high clinical and genetic heterogeneity. Our study confirmed the contribution of ANXA11 mutations to ALS-FTD. The ANXA11 mutations established a complex genotype-phenotype correlation in ALS-FTD.Our research further elucidated the genetic mechanism of ALS-FTD and contributed to setting the foundation of future targeted therapy.
- Subjects
AMYOTROPHIC lateral sclerosis; MAGNETIC resonance imaging; FRONTOTEMPORAL dementia; AMYLOID plaque; DEMENTIA; FRONTOTEMPORAL lobar degeneration; CEREBRAL amyloid angiopathy
- Publication
Frontiers in Neurology, 2022, Vol 13, p1
- ISSN
1664-2295
- Publication type
Article
- DOI
10.3389/fneur.2022.886887