{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:59:58Z","timestamp":1792789198399,"version":"4.5.0"},"reference-count":57,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T00:00:00Z","timestamp":1543881600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"DOI":"10.3389\/fneur.2018.00981","type":"journal-article","created":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T15:43:23Z","timestamp":1543938203000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":85,"title":["Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study"],"prefix":"10.3389","volume":"9","author":[{"given":"Angelica","family":"D'Amore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Tessa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Casali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Dotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Filla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Antenora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guja","family":"Astrea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Barghigiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Battisti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Cereda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemente","family":"Dato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Di Iorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Donadio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Felicori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Fini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Gallone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Gemignani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Luigi","family":"Gigli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Graziano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella","family":"Gurrieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Lieto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Marques Louren\u0106\u0327o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Malandrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Mandich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Marcotulli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Mari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Massacesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A. B.","family":"Melone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Mignarri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Milone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olimpia","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Perna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Petrucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Pini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Pochiero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Roser","family":"Pons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Ricca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Stanzial","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Tinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Toscano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariarosaria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Federico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Rubegni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,12,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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"},{"key":"B2","doi-asserted-by":"publisher","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"},{"key":"B3","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1016\/j.expneurol.2014.06.011","article-title":"Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms","volume":"261","author":"Lo","year":"2014","journal-title":"Exp Neurol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1097\/WCO.0000000000000585","article-title":"Hereditary ataxias and paraparesias: clinical and genetic update","volume":"31","author":"Parodi","year":"2018","journal-title":"Curr Opin Neurol"},{"key":"B5","doi-asserted-by":"publisher","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"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1580","DOI":"10.1111\/ene.13085","article-title":"Identification of mutations in AP4S1\/SPG52 through next generation sequencing in three families","volume":"23","author":"Tessa","year":"2016","journal-title":"Eur J Neurol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","article-title":"The spastic paraplegia rating scale (SPRS): a reliable and valid measure of disease severity","volume":"67","author":"Sch\u00fcle","year":"2006","journal-title":"Neurology"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"B9","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1093\/bfgp\/elr033","article-title":"Targeted enrichment of genomic DNA regions for next-generation sequencing","volume":"10","author":"Mertes","year":"2011","journal-title":"Brief Funct Genomics"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e8","DOI":"10.1093\/nar\/gkq1005","article-title":"Targeted resequencing of candidate genes using selector probes","volume":"39","author":"Johansson","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"B11","doi-asserted-by":"publisher","first-page":"20948","DOI":"10.1038\/srep20948","article-title":"Assessment of the latest NGS enrichment capture methods in clinical context","volume":"6","author":"Garc\u00eda-Garc\u00eda","year":"2016","journal-title":"Sci Rep"},{"key":"B12","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee. 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"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1926","DOI":"10.1212\/01.wnl.0000244413.49258.f5","article-title":"High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia","volume":"67","author":"Beetz","year":"2006","journal-title":"Neurology"},{"key":"B14","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1007\/s10072-011-0899-3","article-title":"Screening for the hereditary spastic paraplegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals","volume":"34","author":"Sulek","year":"2013","journal-title":"Neurol Sci"},{"key":"B15","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1002\/acn3.452","article-title":"Multigeneration family with dominant SPG30 hereditary spastic paraplegia","volume":"4","author":"Roda","year":"2017","journal-title":"Ann Clin Transl Neurol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1007\/PL00007865","article-title":"Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia","volume":"249","author":"Patrono","year":"2002","journal-title":"J Neurol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1038\/sj.ejhg.5201924","article-title":"A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree","volume":"15","author":"Mitne-Neto","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"B18","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1007\/s00415-016-8066-7","article-title":"Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56\/CYP2U1 family","volume":"263","author":"Leonardi","year":"2016","journal-title":"J Neurol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/j.jns.2016.02.007","article-title":"Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1\/SPG28","volume":"362","author":"Mignarri","year":"2016","journal-title":"J Neurol Sci"},{"key":"B20","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.ejpn.2017.04.004","article-title":"Leigh-like neuroimaging features associated with new biallelic mutations in OPA1","volume":"21","author":"Rubegni","year":"2017","journal-title":"Eur J Paediatr Neurol"},{"key":"B21","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1007\/s10048-018-0538-8","article-title":"Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review","volume":"19","author":"Mari","year":"2018","journal-title":"Neurogenetics"},{"key":"B22","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/j.jns.2017.01.069","article-title":"SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing","volume":"375","author":"Rubegni","year":"2017","journal-title":"J Neurol Sci"},{"key":"B23","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/j.ajhg.2008.10.010","article-title":"Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia","volume":"83","author":"Edvardson","year":"2008","journal-title":"Am J Hum Genet"},{"key":"B24","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1093\/brain\/awm293","article-title":"SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration","volume":"131","author":"Stevanin","year":"2008","journal-title":"Brain"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1016\/j.ajhg.2012.10.017","article-title":"Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia","volume":"91","author":"Schuurs-Hoeijmakers","year":"2012","journal-title":"Am J Hum Genet"},{"key":"B26","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1212\/01.wnl.0000201185.91110.15","article-title":"Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia","volume":"66","author":"Elleuch","year":"2006","journal-title":"Neurology"},{"key":"B27","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/jhg.2015.108","article-title":"De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance","volume":"60","author":"Ohba","year":"2015","journal-title":"J Hum Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1002\/ana.20652","article-title":"Spastin mutations in sporadic adult-onset upper motor neuron syndromes","volume":"58","author":"Brugman","year":"2005","journal-title":"Ann Neurol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1177\/0883073818756680","article-title":"Association of early-onset spasticity and risk for cognitive impairment with mutations at amino acid 499 in SPAST","volume":"33","author":"Gillespie","year":"2018","journal-title":"J Child Neurol"},{"key":"B30","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1136\/jnnp-2017-315796","article-title":"Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia","volume":"88","author":"Chelban","year":"2017","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"B31","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1111\/j.1399-0004.2005.00423.x","article-title":"X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females","volume":"67","author":"Coll","year":"2005","journal-title":"Clin Genet"},{"key":"B32","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1093\/hmg\/9.4.637","article-title":"Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia","volume":"14","author":"Fonknechten","year":"2005","journal-title":"Hum Mol Genet"},{"key":"B33","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/1750-1172-7-10","article-title":"Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms","volume":"7","author":"Salsano","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1561","DOI":"10.1093\/brain\/awx095","article-title":"Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia","volume":"140","author":"Minnerop","year":"2017","journal-title":"Brain"},{"key":"B35","doi-asserted-by":"publisher","first-page":"e0153283","DOI":"10.1371\/journal.pone.0153283","article-title":"Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: a pilot study","volume":"11","author":"Martinuzzi","year":"2016","journal-title":"PLoS ONE"},{"key":"B36","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.jns.2016.03.018","article-title":"Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - an analysis of 58 probands","volume":"364","author":"Balicza","year":"2016","journal-title":"J Neurol Sci"},{"key":"B37","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1111\/cge.12133","article-title":"Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia","volume":"85","author":"Bettencourt","year":"2014","journal-title":"Clin Genet"},{"key":"B38","doi-asserted-by":"publisher","first-page":"2516","DOI":"10.1007\/s00415-013-7008-x","article-title":"Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia","volume":"260","author":"Kumar","year":"2013","journal-title":"J Neurol."},{"key":"B39","doi-asserted-by":"publisher","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"},{"key":"B40","doi-asserted-by":"publisher","first-page":"1904","DOI":"10.1093\/brain\/aww111","article-title":"Genetic and phenotypic characterization of complex hereditary spastic paraplegia","volume":"139","author":"Kara","year":"2016","journal-title":"Brain"},{"key":"B41","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1002\/ana.24611","article-title":"Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients","volume":"79","author":"Sch\u00fcle","year":"2016","journal-title":"Ann Neurol"},{"key":"B42","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.jns.2017.10.010","article-title":"Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach","volume":"383","author":"Burguez","year":"2017","journal-title":"J Neurol Sci."},{"key":"B43","doi-asserted-by":"publisher","first-page":"e0174667","DOI":"10.1371\/journal.pone.0174667","article-title":"Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia","volume":"12","author":"Iqbal","year":"2017","journal-title":"PLoS ONE"},{"key":"B44","doi-asserted-by":"publisher","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"},{"key":"B45","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1038\/ejhg.2016.168","article-title":"Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders","volume":"25","author":"van","year":"2017","journal-title":"Eur J Hum Genet."},{"key":"B46","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.1007\/s00415-012-6792-z","article-title":"The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry","volume":"260","author":"Roxburgh","year":"2013","journal-title":"J Neurol"},{"key":"B47","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s10048-018-0545-9","article-title":"The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes","volume":"19","author":"Travaglini","year":"2018","journal-title":"Neurogenetics"},{"key":"B48","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1007\/s00109-018-1655-4","article-title":"Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients","volume":"96","author":"Lu","year":"2018","journal-title":"J Mol Med (Berl)."},{"key":"B49","doi-asserted-by":"publisher","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."},{"key":"B50","doi-asserted-by":"publisher","first-page":"e122","DOI":"10.1212\/NXG.0000000000000122","article-title":"Clinical and genetic study of hereditary spastic paraplegia in Canada","volume":"3","author":"Chrestian","year":"2016","journal-title":"Neurol Genet"},{"key":"B51","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1038\/gim.2015.139","article-title":"Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing","volume":"18","author":"Kancheva","year":"2016","journal-title":"Genet Med"},{"key":"B52","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/j.jns.2017.06.019","article-title":"New genetic causes for complex hereditary spastic paraplegia","volume":"379","author":"Souza","year":"2017","journal-title":"J Neurol Sci"},{"key":"B53","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1016\/B978-0-444-64076-5.00041-7","article-title":"Hereditary spastic paraplegia","volume":"148","author":"Blackstone","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"B54","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13768.","article-title":"Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy","author":"Mancini","year":"2018","journal-title":"Eur J Neurol"},{"key":"B55","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1002\/humu.22836","article-title":"Innovative genomic collaboration using the GENESIS (GEM.app) platform","volume":"36","author":"Gonzalez","year":"2015","journal-title":"Hum Mutat."},{"key":"B56","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1093\/brain\/awx297","article-title":"Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5","volume":"141","author":"Marelli","year":"2018","journal-title":"Brain"},{"key":"B57","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.humov.2017.09.005","article-title":"Identification of specific gait patterns in patients with cerebellar ataxia, spastic paraplegia, and Parkinson's disease: a non-hierarchical cluster analysis","volume":"57","author":"Serrao","year":"2018","journal-title":"Hum Mov Sci"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2018.00981\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T15:43:26Z","timestamp":1543938206000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2018.00981\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,4]]},"references-count":57,"alternative-id":["10.3389\/fneur.2018.00981"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2018.00981","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,4]]},"article-number":"981"}}