Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study

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

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  CAS  Google Scholar 

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

Article  CAS  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  CAS  Google Scholar 

Comments (0)

No login
gif