{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:29:10Z","timestamp":1791804550476,"version":"4.3.4"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and\/or neurodegenerative disorders in which spasticity due to length-dependent damage to the upper motor neuron is a core sign. Their high clinical and genetic heterogeneity makes their diagnosis challenging.<\/jats:p>\n                  <jats:p>Multigene panels allow a high-throughput targeted analysis of the increasing number of genes involved using next-generation sequencing. We report here the clinical and genetic results of 1550 index cases tested for variants in a panel of hereditary spastic paraplegia related genes analysed in routine diagnosis.<\/jats:p>\n                  <jats:p>A causative variant was found in 475 patients (30.7%) in 35\/65 screened genes. SPAST and SPG7 were the most frequently mutated genes, representing 142 (9.2%) and 75 (4.8%) index cases of the whole series, respectively. KIF1A, ATL1, SPG11, KIF5A and REEP1 represented more than 1% (&amp;gt;17 cases) each. There were 661 causative variants (382 different ones) and 30 of them were structural variants. This large cohort allowed us to obtain an overview of the clinical and genetic spectrum of hereditary spastic paraplegia in clinical practice. Because of the wide phenotypic variability, there was no very specific sign that could predict the causative gene, but there were some constellations of symptoms that were found often related to specific subtypes. Finally, we confirmed the diagnostic effectiveness of a targeted sequencing panel as a first-line genetic test in hereditary spastic paraplegia. This is a pertinent strategy because of the relative frequency of several known genes (i.e. SPAST, KIF1A) and it allows identification of variants in the rarest involved genes and detection of structural rearrangements via coverage analysis, which is less efficient in exome datasets. It is crucial because these structural variants represent a significant proportion of the pathogenic hereditary spastic paraplegia variants (\u223c6% of patients), notably for SPAST and REEP1.<\/jats:p>\n                  <jats:p>In a subset of 42 index cases negative for the targeted multigene panel, subsequent whole-exome sequencing allowed a theoretical diagnosis yield of \u223c50% to be reached. We then propose a two-step strategy combining the use of a panel of genes followed by whole-exome sequencing in negative cases.<\/jats:p>","DOI":"10.1093\/brain\/awab386","type":"journal-article","created":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T20:39:19Z","timestamp":1633639159000},"page":"1029-1037","source":"Crossref","is-referenced-by-count":79,"title":["Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4279-7252","authenticated-orcid":false,"given":"Jean-Loup","family":"M\u00e9reaux","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"},{"name":"Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Banneau","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, Institut F\u00e9d\u00e9ratif de Biologie, H\u00f4pital Purpan, 31000 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Papin","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Coarelli","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Valter","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Raymond","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bophara","family":"Kol","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Ariste","sequence":"additional","affiliation":[{"name":"GenoDiag-GenoSplice, Paris Biotech Sante, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Parodi","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"},{"name":"Department of Biology, University of Padua, 35100 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laur\u00e8ne","family":"Tissier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Mairey","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Ait Said","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Gautier","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Guillaud-Bataille","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the French SPATAX clinical network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Azulay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boesfplug-Tanguy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Charles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Goizet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Hannequin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Huin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Labauge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Leguern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"N\u2019Guyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Renaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Verny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Forlani","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"de la Grange","sequence":"additional","affiliation":[{"name":"GenoDiag-GenoSplice, Paris Biotech Sante, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Vazza","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padua, 35100 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Leguern","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9368-8657","authenticated-orcid":false,"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re, 75013 Paris, France"},{"name":"Paris Sciences Lettres University, EPHE, 75000 Paris, France"},{"name":"Department of Medical Genetics, APHP, Sorbonne Universit\u00e9, 75013 Paris, France"},{"name":"Bordeaux University, INCIA, CNRS, 33000, Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,1,4]]},"reference":[{"issue":"3","key":"2022042902240797200_awab386-B1","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000358801","article-title":"The global epidemiology of hereditary ataxia and spastic paraplegia: A systematic review of prevalence studies","volume":"42","author":"Ruano","year":"2014","journal-title":"Neuroepidemiology."},{"issue":"6","key":"2022042902240797200_awab386-B2","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00439-015-1536-7","article-title":"Delving into the complexity of hereditary spastic paraplegias: How unexpected phenotypes and inheritance modes are revolutionizing their nosology","volume":"134","author":"Tesson","year":"2015","journal-title":"Hum Genet."},{"issue":"4","key":"2022042902240797200_awab386-B3","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1007\/s11910-019-0930-2","article-title":"Update on the genetics of spastic paraplegias","volume":"19","author":"Boutry","year":"2019","journal-title":"Curr Neurol Neurosci Rep."},{"issue":"1","key":"2022042902240797200_awab386-B4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s11910-996-0011-1","article-title":"Hereditary spastic paraplegia","volume":"6","author":"Fink","year":"2006","journal-title":"Curr Neurol Neurosci Rep."},{"issue":"6-7","key":"2022042902240797200_awab386-B5","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.neurol.2015.02.017","article-title":"Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting","volume":"171","author":"Klebe","year":"2015","journal-title":"Revue Neurologique."},{"issue":"1","key":"2022042902240797200_awab386-B6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-017-0532-6","article-title":"Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: Increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis","volume":"19","author":"Galatolo","year":"2018","journal-title":"Neurogenetics."},{"issue":"11","key":"2022042902240797200_awab386-B7","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1038\/ejhg.2017.124","article-title":"Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias","volume":"25","author":"Morais","year":"2017","journal-title":"Eur J Hum Genet."},{"issue":"5","key":"2022042902240797200_awab386-B8","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"issue":"5","key":"2022042902240797200_awab386-B9","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1001\/jamaneurol.2017.5121","article-title":"Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes","volume":"75","author":"Coutelier","year":"2018","journal-title":"JAMA Neurol."},{"issue":"6","key":"2022042902240797200_awab386-B10","doi-asserted-by":"crossref","first-page":"2065","DOI":"10.1007\/s00415-019-09633-1","article-title":"Genotype\u2013phenotype associations in hereditary spastic paraplegia: A systematic review and meta-analysis on 13,570 patients","volume":"268","author":"Erfanian Omidvar","year":"2019","journal-title":"J Neurol."},{"issue":"4","key":"2022042902240797200_awab386-B11","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/acn3.51007","article-title":"Expansion of the genetic landscape of ERLIN2-related disorders","volume":"7","author":"Srivastava","year":"2020","journal-title":"Ann Clin Transl Neurol."},{"issue":"1","key":"2022042902240797200_awab386-B12","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"issue":"1","key":"2022042902240797200_awab386-B13","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/s41431-019-0497-z","article-title":"KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia","volume":"28","author":"Pennings","year":"2020","journal-title":"Eur J Hum Genet."},{"issue":"12","key":"2022042902240797200_awab386-B14","doi-asserted-by":"crossref","first-page":"3331","DOI":"10.1093\/brain\/awy285","article-title":"Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex","volume":"141","author":"Parodi","year":"2018","journal-title":"Brain."},{"issue":"23","key":"2022042902240797200_awab386-B15","doi-asserted-by":"crossref","first-page":"e2679","DOI":"10.1212\/WNL.0000000000007606","article-title":"Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7","volume":"92","author":"Coarelli","year":"2019","journal-title":"Neurology."},{"issue":"5","key":"2022042902240797200_awab386-B16","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1111\/cge.12831","article-title":"KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy","volume":"91","author":"Rydzanicz","year":"2017","journal-title":"Clin Genet."},{"issue":"3","key":"2022042902240797200_awab386-B17","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1007\/s10072-019-04180-z","article-title":"SPG8 mutations in Italian families: Clinical data and literature review","volume":"41","author":"Ginanneschi","year":"2020","journal-title":"Neurol Sci."},{"key":"2022042902240797200_awab386-B18","doi-asserted-by":"crossref","first-page":"981","DOI":"10.3389\/fneur.2018.00981","article-title":"Next generation molecular diagnosis of hereditary spastic paraplegias: An Italian cross-sectional study","volume":"9","author":"D'Amore","year":"2018","journal-title":"Front Neurol."},{"issue":"23","key":"2022042902240797200_awab386-B19","doi-asserted-by":"crossref","first-page":"e20193","DOI":"10.1097\/MD.0000000000020193","article-title":"Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study","volume":"99","author":"Cui","year":"2020","journal-title":"Medicine (Baltimore)."},{"issue":"6","key":"2022042902240797200_awab386-B20","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/ejhg.2015.200","article-title":"Hereditary spastic paraplegia in Greece: Characterisation of a previously unexplored population using next-generation sequencing","volume":"24","author":"Lynch","year":"2016","journal-title":"Eur J Hum Genet."},{"issue":"1","key":"2022042902240797200_awab386-B21","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13024-018-0269-1","article-title":"Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China","volume":"13","author":"Dong","year":"2018","journal-title":"Mol Neurodegener."},{"issue":"6170","key":"2022042902240797200_awab386-B22","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science."},{"issue":"4","key":"2022042902240797200_awab386-B23","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2006.046425","article-title":"Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia","volume":"44","author":"Depienne","year":"2007","journal-title":"J Med Genet."},{"issue":"Pt 4","key":"2022042902240797200_awab386-B24","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1093\/brain\/awn026","article-title":"REEP1 mutation spectrum and genotype\/phenotype correlation in hereditary spastic paraplegia type 31","volume":"131","author":"Beetz","year":"2008","journal-title":"Brain."},{"issue":"1","key":"2022042902240797200_awab386-B25","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s10048-020-00633-2","article-title":"Increasing involvement of CAPN1 variants in spastic ataxias and phenotype\u2013genotype correlations","volume":"22","author":"M\u00e9reaux","year":"2021","journal-title":"Neurogenetics."},{"issue":"3","key":"2022042902240797200_awab386-B26","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/mds.28371","article-title":"RNF170-related hereditary spastic paraplegia: Confirmation by a novel mutation","volume":"36","author":"de Sainte Agathe","year":"2021","journal-title":"Mov Disord."}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awab386\/42899399\/awab386.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/145\/3\/1029\/43500066\/awab386.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/145\/3\/1029\/43500066\/awab386.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T22:41:51Z","timestamp":1651185711000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/145\/3\/1029\/6497016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,4]]},"references-count":26,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,1,4]]},"published-print":{"date-parts":[[2022,4,29]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awab386","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,3,1]]},"published":{"date-parts":[[2022,1,4]]}}}