Xu L, Liu T, Liu L, Yao X, Chen L, Fan D, Zhan S, Wang S (2020) Global variation in prevalence and incidence of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol 267:944–953. https://doi.org/10.1007/s00415-019-09652-y
Xu L, Chen L, Wang S, Feng J, Liu L, Liu G, Wang J, Zhan S, Gao P, Fan D (2020) Incidence and prevalence of amyotrophic lateral sclerosis in urban China: a national population-based study. J Neurol Neurosurg Psychiatry 91:520–525. https://doi.org/10.1136/jnnp-2019-322317
Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, Mioshi E, Roberts-South A, Benatar M, HortobaGyi T et al (2017) Amyotrophic lateral sclerosis—frontotemporal spectrum disorder (ALS-FTSD): revised diagnostic criteria. Amyotroph Lat Scl Fr 18:153–174. https://doi.org/10.1080/21678421.2016.1267768
Shefner JM, Al-Chalabi A, Baker MR, Cui LY, de Carvalho M, Eisen A, Grosskreutz J, Hardiman O, Henderson R, Matamala JM et al (2020) A proposal for new diagnostic criteria for ALS. Clin Neurophysiol 131:1975–1978. https://doi.org/10.1016/j.clinph.2020.04.005
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30
Article PubMed PubMed Central Google Scholar
Fontana A, Marin B, Luna J, Beghi E, Logroscino G, Boumédiene F, Preux PM, Couratier P, Copetti M (2021) Time-trend evolution and determinants of sex ratio in Amyotrophic Lateral Sclerosis: a dose-response meta-analysis. J Neurol 268:2973–2984. https://doi.org/10.1007/s00415-021-10464-2
Nicoletti A, Baschi R, Cicero CE, Iacono S, Re VL, Luca A, Schiro G, Monastero R (2023) Sex and gender differences in Alzheimer’s disease, Parkinson’s disease, and Amyotrophic Lateral Sclerosis: a narrative review. Mech Ageing Dev 212:111821. https://doi.org/10.1016/j.mad.2023.111821
Article CAS PubMed Google Scholar
Chiò A, Moglia C, Canosa A, Manera U, D’Ovidio F, Vasta R, Grassano M, Brunetti M, Barberis M, Corrado L et al (2020) ALS phenotype is influenced by age, sex, and genetics. Neurology 94:e802–e810. https://doi.org/10.1212/WNL.0000000000008869
Liu MS, Cui LY, Fan DS (2014) Age at onset of amyotrophic lateral sclerosis in China. Acta Neurol Scand 129:163–167. https://doi.org/10.1111/ane.12157
Article CAS PubMed Google Scholar
Wei QQ, Chen Y, Chen X, Cao B, Ou R, Zhang L, Hou Y, Shang H (2018) Clinical and prognostic features of ALS/MND in different phenotypes-data from a hospital-based registry. Brain Res Bull 142:403–408. https://doi.org/10.1016/j.brainresbull.2018.09.005
Wijesekera LC, Mathers S, Al-Chalabi A, Leigh PN, Talman P, Galtrey C, Parkinson MH, Ganesalingam J, Willey E, Ampong MA et al (2009) Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology 72:1087–1094. https://doi.org/10.1212/01.wnl.0000345041.83406.a2
Article CAS PubMed PubMed Central Google Scholar
Govaarts R, Beeldman E, Kampelmacher MJ, van Tol MJ, van den Berg LH, van der Kooi AJ, Wijkstra PJ, Zijnen-Suyker M, Cobben NA, Schmand BA et al (2016) The frontotemporal syndrome of ALS is associated with poor survival. J Neurol 263:2476–2483. https://doi.org/10.1007/s00415-016-8290-1
Article PubMed PubMed Central Google Scholar
Liu Q, Liu F, Cui B, Lu CX, Guo XN, Wang RR, Liu MS, Li XG, Cui LY, Zhang X (2016) Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 87:1272–1274. https://doi.org/10.1136/jnnp-2016-313337
Zou Z, Liu M, Li X, Cui L (2016) H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression. Amyotroph Lat Scl Fr 17:610–613. https://doi.org/10.1080/21678421.2016.1199698
Zhao X, Feng X, Li X, Mou J, Liu H, Chen J, Wu J (2022) The G41D mutation in SOD1-related amyotrophic lateral sclerosis exhibits phenotypic heterogeneity among individuals: a case report and literature review. Medicine 101:e28771. https://doi.org/10.1097/MD.0000000000028771
Article PubMed PubMed Central Google Scholar
Lu T, Yang J, Luo L, Wei D (2022) FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations. Amyotroph Lat Scl Fr 23:580–584. https://doi.org/10.1080/21678421.2021.2023189
Jiang Q, Lin J, Wei Q, Li C, Hou Y, Cao B, Zhang L, Ou R, Liu K, Yang T et al (2022) Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis. Neurobiol Dis 175:105907. https://doi.org/10.1016/j.nbd.2022.105907
Article CAS PubMed Google Scholar
Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H et al (2011) SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 68:1440–1446. https://doi.org/10.1001/archneurol.2011.250
Li J, Liu Q, Sun X, Zhang K, Liu S, Wang Z, Yang X, Liu M, Cui L, Zhang X (2022) Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature. J Neurol 269:4204–4212. https://doi.org/10.1007/s00415-022-11042-w
Article CAS PubMed Google Scholar
Cui B, Cui L, Gao J, Liu M, Li X, Liu C, Ma J, Fang J (2015) Cognitive impairment in Chinese patients with sporadic amyotrophic lateral sclerosis. PLoS One 10:e137921. https://doi.org/10.1371/journal.pone.0137921
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