{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T14:21:15Z","timestamp":1792333275239,"version":"4.4.0"},"reference-count":69,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T00:00:00Z","timestamp":1683072000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T00:00:00Z","timestamp":1683072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca Corrente5X1000"],"award-info":[{"award-number":["Ricerca Corrente5X1000"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-023-00717-9","type":"journal-article","created":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T23:24:53Z","timestamp":1683069893000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9402-2910","authenticated-orcid":false,"given":"Daniele","family":"Galatolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5990-5590","authenticated-orcid":false,"given":"Rosanna","family":"Trovato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Scarlatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7102-9180","authenticated-orcid":false,"given":"Salvatore","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Natale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3509-185X","authenticated-orcid":false,"given":"Giovanna","family":"De Michele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5434-6806","authenticated-orcid":false,"given":"Melissa","family":"Barghigiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9720-1065","authenticated-orcid":false,"given":"Ettore","family":"Cioffi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9753-5575","authenticated-orcid":false,"given":"Alessandro","family":"Filla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giusi","family":"Bilancieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Casali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1950-1468","authenticated-orcid":false,"given":"Gabriella","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1445-6434","authenticated-orcid":false,"given":"Alessandra","family":"Tessa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,5,3]]},"reference":[{"key":"717_CR1","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1055\/s-2008-1041143","volume":"13","author":"A Harding","year":"1993","unstructured":"Harding A (1993) Hereditary spastic paraplegia. Semin Neurol 13:333\u2013336. https:\/\/doi.org\/10.1055\/s-2008-1041143","journal-title":"Semin Neurol"},{"key":"717_CR2","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1007\/s00401-013-1115-8","volume":"126","author":"JK Fink","year":"2013","unstructured":"Fink JK (2013) Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126:307\u2013328. https:\/\/doi.org\/10.1007\/s00401-013-1115-8","journal-title":"Acta Neuropathol"},{"key":"717_CR3","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1159\/000358801","volume":"42","author":"L Ruano","year":"2014","unstructured":"Ruano L, Melo C, Silva MC, Coutinho P (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174\u2013183. https:\/\/doi.org\/10.1159\/000358801","journal-title":"Neuroepidemiology"},{"key":"717_CR4","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1186\/s12883-022-02595-4","volume":"22","author":"G Vander Stichele","year":"2022","unstructured":"Vander Stichele G, Durr A, Yoon G et al (2022) An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15. BMC Neurol 22:115. https:\/\/doi.org\/10.1186\/s12883-022-02595-4","journal-title":"BMC Neurol"},{"key":"717_CR5","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/j.neurol.2017.03.034","volume":"173","author":"L Parodi","year":"2017","unstructured":"Parodi L, Fenu S, Stevanin G, Durr A (2017) Hereditary spastic paraplegia: more than an upper motor neuron disease. Rev Neurol (Paris) 173:352\u2013360. https:\/\/doi.org\/10.1016\/j.neurol.2017.03.034","journal-title":"Rev Neurol (Paris)"},{"key":"717_CR6","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1007\/s10072-020-04981-7","volume":"42","author":"S Murala","year":"2021","unstructured":"Murala S, Nagarajan E, Bollu PC (2021) Hereditary spastic paraplegia. Neurol Sci 42:883\u2013894. https:\/\/doi.org\/10.1007\/s10072-020-04981-7","journal-title":"Neurol Sci"},{"key":"717_CR7","doi-asserted-by":"publisher","first-page":"690899","DOI":"10.3389\/fmolb.2021.690899","volume":"8","author":"LE Elsayed","year":"2021","unstructured":"Elsayed LE, Eltazi IZ, Ahmed AE, Stevanin G (2021) Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: a comprehensive overview. Front Mol Biosci 8:690899. https:\/\/doi.org\/10.3389\/fmolb.2021.690899","journal-title":"Front Mol Biosci"},{"key":"717_CR8","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.jocn.2019.06.041","volume":"67","author":"C Marques Matos","year":"2019","unstructured":"Marques Matos C, Alonso I, Le\u00e3o M (2019) Diagnostic yield of next-generation sequencing applied to neurological disorders. J Clin Neurosci 67:14\u201318. https:\/\/doi.org\/10.1016\/j.jocn.2019.06.041","journal-title":"J Clin Neurosci"},{"key":"717_CR9","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.critrevonc.2018.11.008","volume":"133","author":"S Morganti","year":"2019","unstructured":"Morganti S, Tarantino P, Ferraro E et al (2019) Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life. Crit Rev Oncol Hematol 133:171\u2013182. https:\/\/doi.org\/10.1016\/j.critrevonc.2018.11.008","journal-title":"Crit Rev Oncol Hematol"},{"key":"717_CR10","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1038\/ng0794-402","volume":"7","author":"M Jouet","year":"1994","unstructured":"Jouet M, Rosenthal A, Armstrong G et al (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402\u2013407. https:\/\/doi.org\/10.1038\/ng0794-402","journal-title":"Nat Genet"},{"key":"717_CR11","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.neurol.2015.02.017","volume":"171","author":"S Klebe","year":"2015","unstructured":"Klebe S, Stevanin G, Depienne C (2015) Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol (Paris) 171:505\u2013530. https:\/\/doi.org\/10.1016\/j.neurol.2015.02.017","journal-title":"Rev Neurol (Paris)"},{"key":"717_CR12","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s11910-021-01099-x","volume":"21","author":"L Saputra","year":"2021","unstructured":"Saputra L, Kumar KR (2021) Challenges and controversies in the genetic diagnosis of hereditary spastic paraplegia. Curr Neurol Neurosci Rep 21:15. https:\/\/doi.org\/10.1007\/s11910-021-01099-x","journal-title":"Curr Neurol Neurosci Rep"},{"key":"717_CR13","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1186\/s12859-020-3421-1","volume":"21","author":"L Zhao","year":"2020","unstructured":"Zhao L, Liu H, Yuan X et al (2020) Comparative study of whole exome sequencing-based copy number variation detection tools. BMC Bioinforma 21:97. https:\/\/doi.org\/10.1186\/s12859-020-3421-1","journal-title":"BMC Bioinforma"},{"key":"717_CR14","doi-asserted-by":"publisher","first-page":"14416","DOI":"10.1038\/s41598-021-93878-2","volume":"11","author":"V Gordeeva","year":"2021","unstructured":"Gordeeva V, Sharova E, Babalyan K et al (2021) Benchmarking germline CNV calling tools from exome sequencing data. Sci Rep 11:14416. https:\/\/doi.org\/10.1038\/s41598-021-93878-2","journal-title":"Sci Rep"},{"key":"717_CR15","doi-asserted-by":"publisher","first-page":"2516","DOI":"10.1007\/s00415-013-7008-x","volume":"260","author":"KR Kumar","year":"2013","unstructured":"Kumar KR, Blair NF, Vandebona H et al (2013) Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol 260:2516\u20132522. https:\/\/doi.org\/10.1007\/s00415-013-7008-x","journal-title":"J Neurol"},{"key":"717_CR16","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1038\/ejhg.2016.108","volume":"25","author":"LE Elsayed","year":"2016","unstructured":"Elsayed LE, Mohammed IN, Hamed AA et al (2016) Hereditary spastic paraplegias: Identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. Eur J Hum Genet 25:100\u2013110. https:\/\/doi.org\/10.1038\/ejhg.2016.108","journal-title":"Eur J Hum Genet"},{"key":"717_CR17","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.jns.2017.10.010","volume":"383","author":"D Burguez","year":"2017","unstructured":"Burguez D, Polese-Bonatto M, Scudeiro LAJ et al (2017) Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach. J Neurol Sci 383:18\u201325. https:\/\/doi.org\/10.1016\/j.jns.2017.10.010","journal-title":"J Neurol Sci"},{"key":"717_CR18","doi-asserted-by":"publisher","first-page":"e0174667","DOI":"10.1371\/journal.pone.0174667","volume":"12","author":"Z Iqbal","year":"2017","unstructured":"Iqbal Z, Rydning SL, Wedding IM et al (2017) Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLoS One 12:e0174667. https:\/\/doi.org\/10.1371\/journal.pone.0174667","journal-title":"PLoS One"},{"key":"717_CR19","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1038\/ejhg.2017.124","volume":"25","author":"S Morais","year":"2017","unstructured":"Morais S, Raymond L, Mairey M et al (2017) Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. Eur J Hum Genet 25:1217\u20131228. https:\/\/doi.org\/10.1038\/ejhg.2017.124","journal-title":"Eur J Hum Genet"},{"key":"717_CR20","doi-asserted-by":"publisher","first-page":"981","DOI":"10.3389\/fneur.2018.00981","volume":"9","author":"A D\u2019Amore","year":"2018","unstructured":"D\u2019Amore A, Tessa A, Casali C et al (2018) Next generation molecular diagnosis of hereditary spastic paraplegias: an Italian cross-sectional study patients and study design. Front Neurol 9:981. https:\/\/doi.org\/10.3389\/fneur.2018.00981","journal-title":"Front Neurol"},{"key":"717_CR21","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s13024-018-0269-1","volume":"13","author":"EL Dong","year":"2018","unstructured":"Dong EL, Wang C, Wu S et al (2018) Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. Mol Neurodegener 13:36. https:\/\/doi.org\/10.1186\/s13024-018-0269-1","journal-title":"Mol Neurodegener"},{"key":"717_CR22","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1007\/s00109-018-1655-4","volume":"96","author":"C Lu","year":"2018","unstructured":"Lu C, Li L-X, Dong H-L et al (2018) Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. J Mol Med 96:701\u2013712. https:\/\/doi.org\/10.1007\/s00109-018-1655-4","journal-title":"J Mol Med"},{"key":"717_CR23","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s10048-018-0545-9","volume":"19","author":"L Travaglini","year":"2018","unstructured":"Travaglini L, Aiello C, Stregapede F et al (2018) The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Neurogenetics 19:111\u2013121. https:\/\/doi.org\/10.1007\/s10048-018-0545-9","journal-title":"Neurogenetics"},{"key":"717_CR24","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1080\/01677063.2019.1566326","volume":"33","author":"M Almomen","year":"2019","unstructured":"Almomen M, Martens K, Quadir A et al (2019) High diagnostic yield and novel variants in very late-onset spasticity. J Neurogenet 33:27\u201332. https:\/\/doi.org\/10.1080\/01677063.2019.1566326","journal-title":"J Neurogenet"},{"key":"717_CR25","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s40035-019-0157-9","volume":"8","author":"Q Wei","year":"2019","unstructured":"Wei Q, Dong HL, Pan L-Y et al (2019) Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. Transl Neurodegener 8:19. https:\/\/doi.org\/10.1186\/s40035-019-0157-9","journal-title":"Transl Neurodegener"},{"key":"717_CR26","doi-asserted-by":"publisher","first-page":"e20193","DOI":"10.1097\/MD.0000000000020193","volume":"99","author":"F Cui","year":"2020","unstructured":"Cui F, Sun L, Qiao J et al (2020) Genetic mutation analysis of hereditary spastic paraplegia: a retrospective study. Medicine (Baltimore) 99:e20193. https:\/\/doi.org\/10.1097\/MD.0000000000020193","journal-title":"Medicine (Baltimore)"},{"key":"717_CR27","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.parkreldis.2020.09.013","volume":"80","author":"B Jiao","year":"2020","unstructured":"Jiao B, Zhou Z, Hu Z et al (2020) Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families. Parkinsonism Relat Disord 80:65\u201372. https:\/\/doi.org\/10.1016\/j.parkreldis.2020.09.013","journal-title":"Parkinsonism Relat Disord"},{"key":"717_CR28","doi-asserted-by":"publisher","first-page":"e412","DOI":"10.1212\/NXG.0000000000000412","volume":"6","author":"TL Winder","year":"2020","unstructured":"Winder TL, Tan CA, Klemm S et al (2020) Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Neurol Genet 6:e412. https:\/\/doi.org\/10.1212\/NXG.0000000000000412","journal-title":"Neurol Genet"},{"key":"717_CR29","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1017\/cjn.2020.277","volume":"48","author":"I Haj Salem","year":"2021","unstructured":"Haj Salem I, Beaudin M, Stumpf M et al (2021) Genetic and epidemiological study of adult ataxia and spastic paraplegia in Eastern Quebec. Can J Neurol Sci 48:655\u2013665. https:\/\/doi.org\/10.1017\/cjn.2020.277","journal-title":"Can J Neurol Sci"},{"key":"717_CR30","doi-asserted-by":"publisher","first-page":"2804","DOI":"10.3390\/cells11182804","volume":"11","author":"S Peri\u0107","year":"2022","unstructured":"Peri\u0107 S, Markovi\u0107 V, Candayan A et al (2022) Phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia. Cells 11:2804. https:\/\/doi.org\/10.3390\/cells11182804","journal-title":"Cells"},{"key":"717_CR31","doi-asserted-by":"publisher","first-page":"4989","DOI":"10.1007\/s10072-022-05921-3","volume":"43","author":"F Xing","year":"2022","unstructured":"Xing F, Du J (2022) Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia. Neurol Sci 43:4989\u20134996. https:\/\/doi.org\/10.1007\/s10072-022-05921-3","journal-title":"Neurol Sci"},{"key":"717_CR32","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1126\/science.1247363","volume":"343","author":"G Novarino","year":"2014","unstructured":"Novarino G, Fenstermaker AG, Zaki MS et al (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343:506\u2013511. https:\/\/doi.org\/10.1126\/science.1247363","journal-title":"Science"},{"key":"717_CR33","doi-asserted-by":"publisher","first-page":"1904","DOI":"10.1093\/brain\/aww111","volume":"139","author":"E Kara","year":"2016","unstructured":"Kara E, Tucci A, Manzoni C et al (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139:1904\u20131918. https:\/\/doi.org\/10.1093\/brain\/aww111","journal-title":"Brain"},{"key":"717_CR34","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1038\/ejhg.2016.42","volume":"24","author":"BP van de Warrenburg","year":"2016","unstructured":"van de Warrenburg BP, Schouten MI, de Bot ST et al (2016) Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene\u2013disease associations and unanticipated rare disorders. Eur J Hum Genet 24:1460\u20131466. https:\/\/doi.org\/10.1038\/ejhg.2016.42","journal-title":"Eur J Hum Genet"},{"key":"717_CR35","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/j.jns.2017.06.019","volume":"379","author":"PVS Souza","year":"2017","unstructured":"Souza PVS, Bortholin T, Dias RB et al (2017) New genetic causes for complex hereditary spastic paraplegia. J Neurol Sci 379:283\u2013292. https:\/\/doi.org\/10.1016\/j.jns.2017.06.019","journal-title":"J Neurol Sci"},{"key":"717_CR36","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1007\/s10048-019-00565-6","volume":"20","author":"E Elert-Dobkowska","year":"2019","unstructured":"Elert-Dobkowska E, Stepniak I, Krysa W et al (2019) Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics 20:27\u201338. https:\/\/doi.org\/10.1007\/s10048-019-00565-6","journal-title":"Neurogenetics"},{"key":"717_CR37","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1007\/s40291-019-00426-w","volume":"23","author":"M Zhao","year":"2019","unstructured":"Zhao M, Chen Y-J, Wang M-W et al (2019) Genetic and clinical profile of chinese patients with autosomal dominant spastic paraplegia. Mol Diagnosis Ther 23:781\u2013789. https:\/\/doi.org\/10.1007\/s40291-019-00426-w","journal-title":"Mol Diagnosis Ther"},{"key":"717_CR38","doi-asserted-by":"publisher","first-page":"136108","DOI":"10.1016\/j.neulet.2021.136108","volume":"761","author":"Y Dong","year":"2021","unstructured":"Dong Y, Li X-Y, Wang X-L et al (2021) Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese. Neurosci Lett 761:136108. https:\/\/doi.org\/10.1016\/j.neulet.2021.136108","journal-title":"Neurosci Lett"},{"key":"717_CR39","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1017\/cjn.2021.188","volume":"49","author":"SS Hashemi","year":"2022","unstructured":"Hashemi SS, Hajati R, Davarzani A et al (2022) Anticipation can be more common in hereditary spastic paraplegia with SPAST mutations than it appears. Can J Neurol Sci 49:651\u2013661. https:\/\/doi.org\/10.1017\/cjn.2021.188","journal-title":"Can J Neurol Sci"},{"key":"717_CR40","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1007\/s13760-021-01779-y","volume":"122","author":"I Sahin","year":"2022","unstructured":"Sahin I, Saat H (2022) Hereditary spastic paraplegia: new insights into clinical variability and spasticity\u2013ataxia phenotype, and novel mutations. Acta Neurol Belg 122:1529\u20131535. https:\/\/doi.org\/10.1007\/s13760-021-01779-y","journal-title":"Acta Neurol Belg"},{"key":"717_CR41","doi-asserted-by":"publisher","first-page":"100114","DOI":"10.1016\/j.prdoa.2021.100114","volume":"5","author":"O Suchowersky","year":"2021","unstructured":"Suchowersky O, Ashtiani S, Au PYB et al (2021) Hereditary spastic paraplegia initially diagnosed as cerebral palsy. Clin Park Relat Disord 5:100114. https:\/\/doi.org\/10.1016\/j.prdoa.2021.100114","journal-title":"Clin Park Relat Disord"},{"key":"717_CR42","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1080\/00207454.2020.1838514","volume":"132","author":"P Carrasco Salas","year":"2022","unstructured":"Carrasco Salas P, Mart\u00ednez Fern\u00e1ndez E, M\u00e9ndez del Barrio C et al (2022) Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region. Int J Neurosci 132:767\u2013777. https:\/\/doi.org\/10.1080\/00207454.2020.1838514","journal-title":"Int J Neurosci"},{"key":"717_CR43","doi-asserted-by":"publisher","unstructured":"Diarra S, Coulibaly T, Demb\u00e9l\u00e9 K et al (2022) Hereditary spastic paraplegia in Mali: epidemiological and clinical features. Acta Neurol Belg. Online ahead of print. https:\/\/doi.org\/10.1007\/s13760-022-02113-w","DOI":"10.1007\/s13760-022-02113-w"},{"key":"717_CR44","doi-asserted-by":"publisher","first-page":"1005670","DOI":"10.3389\/fneur.2022.1005670","volume":"13","author":"MY Lan","year":"2022","unstructured":"Lan MY, Lu CS, Wu SL et al (2022) Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement. Front Neurol 13:1005670. https:\/\/doi.org\/10.3389\/fneur.2022.1005670","journal-title":"Front Neurol"},{"key":"717_CR45","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1080\/01677063.2022.2064463","volume":"36","author":"S Narendiran","year":"2022","unstructured":"Narendiran S, Debnath M, Shivaram S et al (2022) Novel insights into the genetic profile of hereditary spastic paraplegia in India. J Neurogenet 36:21\u201331. https:\/\/doi.org\/10.1080\/01677063.2022.2064463","journal-title":"J Neurogenet"},{"key":"717_CR46","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s13760-021-01649-7","volume":"122","author":"G Sager","year":"2022","unstructured":"Sager G, Turkyilmaz A, Ates EA, Kutlubay B (2022) HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies. Acta Neurol Belg 122:391\u2013399. https:\/\/doi.org\/10.1007\/s13760-021-01649-7","journal-title":"Acta Neurol Belg"},{"key":"717_CR47","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.jns.2016.03.018","volume":"364","author":"P Balicza","year":"2016","unstructured":"Balicza P, Grosz Z, Gonzalez MA et al (2016) Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - an analysis of 58 probands. J Neurol Sci 364:116\u2013121. https:\/\/doi.org\/10.1016\/j.jns.2016.03.018","journal-title":"J Neurol Sci"},{"key":"717_CR48","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1038\/ejhg.2015.200","volume":"24","author":"DS Lynch","year":"2016","unstructured":"Lynch DS, Koutsis G, Tucci A et al (2016) Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. Eur J Hum Genet 24:857\u2013863. https:\/\/doi.org\/10.1038\/ejhg.2015.200","journal-title":"Eur J Hum Genet"},{"key":"717_CR49","doi-asserted-by":"publisher","first-page":"22248","DOI":"10.1038\/s41598-021-01635-2","volume":"11","author":"GM Giordani","year":"2021","unstructured":"Giordani GM, Diniz F, Fussiger H et al (2021) Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias. Sci Rep 11:22248. https:\/\/doi.org\/10.1038\/s41598-021-01635-2","journal-title":"Sci Rep"},{"key":"717_CR50","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1093\/brain\/awab386","volume":"145","author":"JL M\u00e9reaux","year":"2022","unstructured":"M\u00e9reaux JL, Banneau G, Papin M et al (2022) Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain 145:1029\u20131037. https:\/\/doi.org\/10.1093\/brain\/awab386","journal-title":"Brain"},{"key":"717_CR51","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1007\/s10048-016-0495-z","volume":"17","author":"KR Kumar","year":"2016","unstructured":"Kumar KR, Wali GM, Kamate M et al (2016) Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. Neurogenetics 17:265\u2013270. https:\/\/doi.org\/10.1007\/s10048-016-0495-z","journal-title":"Neurogenetics"},{"key":"717_CR52","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1007\/s12311-019-01038-0","volume":"18","author":"A Kim","year":"2019","unstructured":"Kim A, Kumar KR, Davis RL et al (2019) Increased diagnostic yield of spastic paraplegia with or without cerebellar ataxia through whole-genome sequencing. Cerebellum 18:781\u2013790. https:\/\/doi.org\/10.1007\/s12311-019-01038-0","journal-title":"Cerebellum"},{"key":"717_CR53","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale 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 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"717_CR54","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.jns.2011.03.043","volume":"306","author":"C Proukakis","year":"2011","unstructured":"Proukakis C, Moore D, Labrum R et al (2011) Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J Neurol Sci 306:62\u201365. https:\/\/doi.org\/10.1016\/j.jns.2011.03.043","journal-title":"J Neurol Sci"},{"key":"717_CR55","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1002\/mds.20494","volume":"20","author":"A Orlacchio","year":"2005","unstructured":"Orlacchio A, Kawarai T, Gaudiello F et al (2005) Clinical and genetic study of a large SPG4 Italian family. Mov Disord 20:1055\u20131059. https:\/\/doi.org\/10.1002\/mds.20494","journal-title":"Mov Disord"},{"key":"717_CR56","doi-asserted-by":"publisher","first-page":"3230","DOI":"10.1097\/CCM.0b013e3182657560","volume":"40","author":"R Hu","year":"2012","unstructured":"Hu R, Sun H, Zhang Q et al (2012) G-protein coupled estrogen receptor 1 mediated estrogenic neuroprotection against spinal cord injury. Crit Care Med 40:3230\u20133237. https:\/\/doi.org\/10.1097\/CCM.0b013e3182657560","journal-title":"Crit Care Med"},{"key":"717_CR57","doi-asserted-by":"publisher","first-page":"2065","DOI":"10.1007\/s00415-019-09633-1","volume":"268","author":"M ErfanianOmidvar","year":"2021","unstructured":"ErfanianOmidvar M, Torkamandi S, Rezaei S et al (2021) Genotype\u2013phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. J Neurol 268:2065\u20132082. https:\/\/doi.org\/10.1007\/s00415-019-09633-1","journal-title":"J Neurol"},{"key":"717_CR58","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1038\/s41576-020-0236-x","volume":"21","author":"GA Logsdon","year":"2020","unstructured":"Logsdon GA, Vollger MR, Eichler EE (2020) Long-read human genome sequencing and its applications. Nat Rev Genet 21:597\u2013614. https:\/\/doi.org\/10.1038\/s41576-020-0236-x","journal-title":"Nat Rev Genet"},{"key":"717_CR59","doi-asserted-by":"publisher","first-page":"8490","DOI":"10.3390\/ijms22168490","volume":"22","author":"D Galatolo","year":"2021","unstructured":"Galatolo D, De Michele G, Silvestri G et al (2021) NGS in hereditary ataxia: when rare becomes frequent. Int J Mol Sci 22:8490. https:\/\/doi.org\/10.3390\/ijms22168490","journal-title":"Int J Mol Sci"},{"key":"717_CR60","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10048-017-0532-6","volume":"19","author":"D Galatolo","year":"2018","unstructured":"Galatolo D, Tessa A, Filla A, Santorelli FM (2018) Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. Neurogenetics 19:1\u20138. https:\/\/doi.org\/10.1007\/s10048-017-0532-6","journal-title":"Neurogenetics"},{"key":"717_CR61","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1002\/acn3.50967","volume":"7","author":"E Verdura","year":"2020","unstructured":"Verdura E, Schl\u00fcter A, Fern\u00e1ndez-Eulate G et al (2020) A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. Ann Clin Transl Neurol 7:105\u2013111. https:\/\/doi.org\/10.1002\/acn3.50967","journal-title":"Ann Clin Transl Neurol"},{"key":"717_CR62","doi-asserted-by":"publisher","first-page":"2060","DOI":"10.1002\/humu.23658","volume":"39","author":"S Magri","year":"2018","unstructured":"Magri S, Fracasso V, Plumari M et al (2018) Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. Hum Mutat 39:2060\u20132071. https:\/\/doi.org\/10.1002\/humu.23658","journal-title":"Hum Mutat"},{"key":"717_CR63","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1038\/s41436-020-0924-0","volume":"22","author":"DM Bis-Brewer","year":"2020","unstructured":"Bis-Brewer DM, Gan-Or Z, Sleiman P et al (2020) Assessing non-Mendelian inheritance in inherited axonopathies. Genet Med 22:2114\u20132119. https:\/\/doi.org\/10.1038\/s41436-020-0924-0","journal-title":"Genet Med"},{"key":"717_CR64","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/gepi.1370100103","volume":"10","author":"M De Braekeleer","year":"1993","unstructured":"De Braekeleer M, Giasson F, Mathieu J et al (1993) Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol 10:17\u201325. https:\/\/doi.org\/10.1002\/gepi.1370100103","journal-title":"Genet Epidemiol"},{"key":"717_CR65","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1007\/s12031-019-01410-z","volume":"70","author":"G Xiromerisiou","year":"2020","unstructured":"Xiromerisiou G, Dadouli K, Marogianni C et al (2020) A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. J Mol Neurosci 70:131\u2013141. https:\/\/doi.org\/10.1007\/s12031-019-01410-z","journal-title":"J Mol Neurosci"},{"key":"717_CR66","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1017\/S0317167100006065","volume":"34","author":"IA Meijer","year":"2007","unstructured":"Meijer IA, Dupr\u00e9 N, Brais B et al (2007) SPG4 founder effect in French Canadians with hereditary spastic paraplegia. Can J Neurol Sci 34:211\u2013214. https:\/\/doi.org\/10.1017\/S0317167100006065","journal-title":"Can J Neurol Sci"},{"key":"717_CR67","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1136\/jmedgenet-2012-100742","volume":"49","author":"Y Zivony-Elboum","year":"2012","unstructured":"Zivony-Elboum Y, Westbroek W, Kfir N et al (2012) A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet 49:462\u2013472. https:\/\/doi.org\/10.1136\/jmedgenet-2012-100742","journal-title":"J Med Genet"},{"key":"717_CR68","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1111\/ene.12937","volume":"23","author":"SL Rydning","year":"2016","unstructured":"Rydning SL, Wedding IM, Koht J et al (2016) A founder mutation p. H701P identified as a major cause of SPG7 in Norway. Eur J Neurol 23:763\u2013771. https:\/\/doi.org\/10.1111\/ene.12937","journal-title":"Eur J Neurol"},{"key":"717_CR69","doi-asserted-by":"publisher","unstructured":"Becker A, Felici C, Lambert L et al (2023) Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy, and spastic paraplegia: Report of three families. Clin Genet 103:346\u2013351. https:\/\/doi.org\/10.1111\/cge.14264","DOI":"10.1111\/cge.14264"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-023-00717-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-023-00717-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-023-00717-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T23:28:26Z","timestamp":1683070106000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-023-00717-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,3]]},"references-count":69,"alternative-id":["717"],"URL":"https:\/\/doi.org\/10.1007\/s10048-023-00717-9","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,3]]},"assertion":[{"value":"13 October 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}