{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T13:01:40Z","timestamp":1793278900590,"version":"4.5.0"},"reference-count":35,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To describe the clinical and neurogenetic spectrum of paediatric\u2010onset hereditary spastic paraplegias (HSPs) diagnosed in our unit.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>We report on 47 patients (30 males, 17 females; mean [SD] age 12y 7mo [6y 2mo], range 4\u201334y) clinically diagnosed with an HSP at the Child Neurology Unit, IRCCS\u2010ASMN (Reggio Emilia, Italy) between 1990 and 2018, who were genetically investigated by means of single\u2010gene direct sequencing and\/or next\u2010generation sequencing technologies (targeted panels, whole\u2010exome sequencing [WES]).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Complex forms prevailed slightly (\n                      <jats:italic>n<\/jats:italic>\n                      =26), autosomal dominant being the main inheritance pattern (\n                      <jats:italic>n<\/jats:italic>\n                      =11), followed by recessive (\n                      <jats:italic>n<\/jats:italic>\n                      =5) and X\u2010linked (\n                      <jats:italic>n<\/jats:italic>\n                      =1). A definite genetic diagnosis was achieved in 17 patients. Spastic paraplegia 3A (\n                      <jats:italic>n<\/jats:italic>\n                      =4) was the most frequent cause of autosomal dominant HSP in our cohort, while no genetic variant prevailed in autosomal recessive forms and pathogenic\/likely pathogenic variants were disclosed in a wide range of different genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>We found wide phenotypic and genetic heterogeneity. With increasing accessibility to WES, a higher number of patients receive a diagnosis, allowing detection of variants in ultra\u2010rare disease\u2010causing genes and refining genotype\u2013phenotype correlations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>What this paper adds<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>A genetic diagnosis of paediatric\u2010onset hereditary spastic paraplegia was achieved in one\u2010third of patients.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Pathogenic\/likely pathogenic variants in rare genes were found.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Genotypic and phenotypic heterogeneity favours targeted panel\/whole\u2010exome sequencing for diagnosis.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.14547","type":"journal-article","created":{"date-parts":[[2020,4,11]],"date-time":"2020-04-11T02:48:25Z","timestamp":1586573305000},"page":"1068-1074","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Paediatric\u2010onset hereditary spastic paraplegias: a retrospective cohort study"],"prefix":"10.1111","volume":"62","author":[{"given":"Silvia","family":"Schiavoni","sequence":"first","affiliation":[{"name":"Child Neurology Unit Department of Paediatrics Azienda USL\u2010IRCCS di Reggio Emilia Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1828-4035","authenticated-orcid":false,"given":"Carlotta","family":"Spagnoli","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Department of Paediatrics Azienda USL\u2010IRCCS di Reggio Emilia Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Rizzi","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Department of Paediatrics Azienda USL\u2010IRCCS di Reggio Emilia Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia G","family":"Salerno","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Department of Paediatrics Azienda USL\u2010IRCCS di Reggio Emilia Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Frattini","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Department of Paediatrics Azienda USL\u2010IRCCS di Reggio Emilia Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Pisani","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit Neuroscience Division Medicine &amp; Surgery Department University of Parma Parma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Department of Paediatrics Azienda USL\u2010IRCCS di Reggio Emilia Reggio Emilia Italy"},{"name":"Paediatric Neurophysiology Laboratory Department of Paediatrics Azienda USL\u2010IRCCS di Reggio Emilia Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.03.025"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24611"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1115-8"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811435245"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.08.003"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-019-0752-5"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8393-3"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1672174"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-018-0269-1"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-018-0545-9"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.12816\/0003258"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-016-0495-z"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00981"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8179-z"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww111"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-016-0495-z"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.200"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2015.00067"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09633-1"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-019-00426-w"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40035-019-0157-9"},{"key":"e_1_2_8_25_1","volume-title":"GeneReviews\u00ae","author":"Parodi L"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv178"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073815627880"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12654"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.08.001"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.650"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb01902.x"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.158"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2020.105676"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37632"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000585"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-019-00565-6"}],"container-title":["Developmental Medicine &amp; 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