{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:12:28Z","timestamp":1777389148393,"version":"3.51.4"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T00:00:00Z","timestamp":1699660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T00:00:00Z","timestamp":1699660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"The Strategic Priority Research Program (Pilot study)\u201cBiological basis of aging and therapeutic strategies\u201d of the Chinese Academy of Sciences","award":["XDB39040000"],"award-info":[{"award-number":["XDB39040000"]}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["CIFMS 2021-I2M-1-003"],"award-info":[{"award-number":["CIFMS 2021-I2M-1-003"]}]},{"name":"National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-B-017"],"award-info":[{"award-number":["2022-PUMCH-B-017"]}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7202158"],"award-info":[{"award-number":["7202158"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1007\/s10072-023-07178-w","type":"journal-article","created":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T18:01:31Z","timestamp":1699725691000},"page":"1515-1522","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study"],"prefix":"10.1007","volume":"45","author":[{"given":"Nan","family":"Hu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongchao","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xunzhe","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0257-5345","authenticated-orcid":false,"given":"Mingsheng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liying","family":"Cui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,11,11]]},"reference":[{"issue":"11","key":"7178_CR1","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1038\/nrneurol.2013.203","volume":"9","author":"A Al-Chalabi","year":"2013","unstructured":"Al-Chalabi A, Hardiman O (2013) The epidemiology of ALS: a conspiracy of genes, environment and time. Nat Rev Neurol 9(11):617\u2013628","journal-title":"Nat Rev Neurol"},{"issue":"1","key":"7178_CR2","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1186\/s12955-020-01551-5","volume":"18","author":"M Galvin","year":"2020","unstructured":"Galvin M et al (2020) Individual quality of life in spousal ALS patient-caregiver dyads. Health Qual Life Outcomes 18(1):371","journal-title":"Health Qual Life Outcomes"},{"issue":"4","key":"7178_CR3","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1007\/s00415-019-09652-y","volume":"267","author":"L Xu","year":"2020","unstructured":"Xu L et al (2020) Global variation in prevalence and incidence of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol 267(4):944\u2013953","journal-title":"J Neurol"},{"issue":"9","key":"7178_CR4","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1136\/jmedgenet-2021-107965","volume":"59","author":"YP Chen","year":"2022","unstructured":"Chen YP et al (2022) Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population. J Med Genet 59(9):840\u2013849","journal-title":"J Med Genet"},{"issue":"12","key":"7178_CR5","doi-asserted-by":"publisher","first-page":"3345","DOI":"10.1016\/j.ymthe.2021.04.008","volume":"29","author":"DA Amado","year":"2021","unstructured":"Amado DA, Davidson BL (2021) Gene therapy for ALS: a review. Mol Ther 29(12):3345\u20133358","journal-title":"Mol Ther"},{"issue":"5","key":"7178_CR6","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1080\/146608200300079536","volume":"1","author":"BR Brooks","year":"2000","unstructured":"Brooks BR et al (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1(5):293\u2013299","journal-title":"Amyotroph Lateral Scler Other Motor Neuron Disord"},{"issue":"11","key":"7178_CR7","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1136\/jmedgenet-2013-101795","volume":"50","author":"KP Kenna","year":"2013","unstructured":"Kenna KP et al (2013) Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet 50(11):776\u2013783","journal-title":"J Med Genet"},{"issue":"1\u20132","key":"7178_CR8","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0022-510X(99)00210-5","volume":"169","author":"JM Cedarbaum","year":"1999","unstructured":"Cedarbaum JM et al (1999) The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function BDNF ALS Study Group (Phase III). J Neurol Sci 169(1\u20132):13\u201321","journal-title":"J Neurol Sci"},{"issue":"2","key":"7178_CR9","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1212\/01.wnl.0000194316.91908.8a","volume":"66","author":"F Kimura","year":"2006","unstructured":"Kimura F et al (2006) Progression rate of ALSFRS-R at time of diagnosis predicts survival time in ALS. Neurology 66(2):265\u2013267","journal-title":"Neurology"},{"issue":"4","key":"7178_CR10","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.3233\/JAD-141278","volume":"43","author":"JP Tan","year":"2015","unstructured":"Tan JP et al (2015) Optimal cutoff scores for dementia and mild cognitive impairment of the Montreal Cognitive Assessment among elderly and oldest-old Chinese population. J Alzheimers Dis 43(4):1403\u20131412","journal-title":"J Alzheimers Dis"},{"key":"7178_CR11","doi-asserted-by":"publisher","first-page":"217.e15","DOI":"10.1016\/j.neurobiolaging.2015.11.016","volume":"38","author":"Y Chen","year":"2016","unstructured":"Chen Y et al (2016) Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis. Neurobiol Aging 38:217.e15-217.e22","journal-title":"Neurobiol Aging"},{"issue":"5","key":"7178_CR12","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S 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(5):405\u2013424","journal-title":"Genet Med"},{"issue":"3\u20134","key":"7178_CR13","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1080\/21678421.2016.1267768","volume":"18","author":"MJ Strong","year":"2017","unstructured":"Strong MJ et al (2017) Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener 18(3\u20134):153\u2013174","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"issue":"4","key":"7178_CR14","doi-asserted-by":"publisher","first-page":"2579","DOI":"10.1007\/s10072-021-05634-z","volume":"43","author":"J Ma","year":"2022","unstructured":"Ma J et al (2022) Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis. Neurol Sci 43(4):2579\u20132587","journal-title":"Neurol Sci"},{"issue":"3\u20134","key":"7178_CR15","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1080\/21678421.2019.1582670","volume":"20","author":"H Klepek","year":"2019","unstructured":"Klepek H et al (2019) Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients. Amyotroph Lateral Scler Frontotemporal Degener 20(3\u20134):216\u2013221","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"issue":"7","key":"7178_CR16","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1136\/jnnp-2016-315018","volume":"88","author":"ZY Zou","year":"2017","unstructured":"Zou ZY et al (2017) Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 88(7):540\u2013549","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"7178_CR17","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1002\/ana.24306","volume":"77","author":"J Cady","year":"2015","unstructured":"Cady J et al (2015) Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. Ann Neurol 77(1):100\u2013113","journal-title":"Ann Neurol"},{"issue":"6","key":"7178_CR18","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1093\/brain\/awx082","volume":"140","author":"S Morgan","year":"2017","unstructured":"Morgan S et al (2017) A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain 140(6):1611\u20131618","journal-title":"Brain"},{"key":"7178_CR19","doi-asserted-by":"publisher","first-page":"238.e9","DOI":"10.1016\/j.neurobiolaging.2017.06.007","volume":"58","author":"SY Pang","year":"2017","unstructured":"Pang SY et al (2017) Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. Neurobiol Aging 58:238.e9-238.e15","journal-title":"Neurobiol Aging"},{"issue":"8","key":"7178_CR20","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1136\/jnnp-2017-317234","volume":"89","author":"MJ Keogh","year":"2018","unstructured":"Keogh MJ et al (2018) Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains. J Neurol Neurosurg Psychiatry 89(8):813\u2013816","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"7178_CR21","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1212\/01.wnl.0000296811.19811.db","volume":"70","author":"PN Valdmanis","year":"2008","unstructured":"Valdmanis PN, Rouleau GA (2008) Genetics of familial amyotrophic lateral sclerosis. Neurology 70(2):144\u2013152","journal-title":"Neurology"},{"issue":"1","key":"7178_CR22","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000390","volume":"6","author":"J Roggenbuck","year":"2020","unstructured":"Roggenbuck J et al (2020) Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort. Neurol Genet 6(1):e390","journal-title":"Neurol Genet"},{"key":"7178_CR23","doi-asserted-by":"publisher","unstructured":"Rusina R, Vandenberghe R, Bruffaerts R (2021) Cognitive and behavioral manifestations in ALS: Beyond motor system involvement. Diagnostics (Basel) 11(4):624. https:\/\/doi.org\/10.3390\/diagnostics11040624","DOI":"10.3390\/diagnostics11040624"},{"issue":"4","key":"7178_CR24","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1038\/jhg.2010.16","volume":"55","author":"N Suzuki","year":"2010","unstructured":"Suzuki N et al (2010) FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. J Hum Genet 55(4):252\u2013254","journal-title":"J Hum Genet"},{"issue":"3","key":"7178_CR25","doi-asserted-by":"publisher","first-page":"553.e13","DOI":"10.1016\/j.neurobiolaging.2010.04.009","volume":"32","author":"CP Tsai","year":"2011","unstructured":"Tsai CP et al (2011) FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol Aging 32(3):553.e13\u201321","journal-title":"Neurobiol Aging"},{"key":"7178_CR26","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.neuro.2016.06.015","volume":"61","author":"MD Wang","year":"2017","unstructured":"Wang MD et al (2017) Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis. Neurotoxicology 61:101\u2013130","journal-title":"Neurotoxicology"},{"issue":"20","key":"7178_CR27","doi-asserted-by":"publisher","first-page":"6132","DOI":"10.1111\/febs.16129","volume":"289","author":"BC Lin","year":"2022","unstructured":"Lin BC et al (2022) UBQLN proteins in health and disease with a focus on UBQLN2 in ALS\/FTD. Febs j 289(20):6132\u20136153","journal-title":"Febs j"},{"issue":"5","key":"7178_CR28","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1097\/WCO.0000000000001093","volume":"35","author":"D Brenner","year":"2022","unstructured":"Brenner D, Freischmidt A (2022) Update on genetics of amyotrophic lateral sclerosis. Curr Opin Neurol 35(5):672\u2013677","journal-title":"Curr Opin Neurol"},{"issue":"5","key":"7178_CR29","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1159\/000516752","volume":"55","author":"CA Brown","year":"2021","unstructured":"Brown CA et al (2021) Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants. Neuroepidemiology 55(5):342\u2013353","journal-title":"Neuroepidemiology"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-07178-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-023-07178-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-07178-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T07:26:02Z","timestamp":1710487562000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-023-07178-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,11]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["7178"],"URL":"https:\/\/doi.org\/10.1007\/s10072-023-07178-w","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,11]]},"assertion":[{"value":"4 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 October 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Ethics Committee of the PUMCH (JS1210). All enrolled patients provided written, informed consent to be included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and\u00a0Informed consent"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}