{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T14:21:14Z","timestamp":1792333274359,"version":"4.4.0"},"reference-count":60,"publisher":"FapUNIFESP (SciELO)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>ABSTRACT The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Str\u00fcmpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.<\/jats:p>","DOI":"10.1590\/0004-282x20170160","type":"journal-article","created":{"date-parts":[[2017,12,6]],"date-time":"2017-12-06T22:28:55Z","timestamp":1512599335000},"page":"813-818","source":"Crossref","is-referenced-by-count":36,"title":["Hereditary spastic paraplegia from 1880 to 2017: an historical review"],"prefix":"10.1590","volume":"75","author":[{"given":"Ingrid","family":"Faber","sequence":"first","affiliation":[{"name":"Universidade Estadual de Campinas,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo Rafael","family":"Pereira","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto R. M.","family":"Martinez","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcondes","family":"Fran\u00e7a Jr","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9lio Afonso Ghizoni","family":"Teive","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"issue":"3","key":"ref1","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1055\/s-0034-1386767","article-title":"Hereditary spastic paraplegia: clinical principles and genetic advances","volume":"34","author":"Fink JK","year":"2014","journal-title":"Semin Neurol."},{"issue":"6-7","key":"ref2","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 S","year":"2015","journal-title":"Rev Neurol(Paris)."},{"issue":"6","key":"ref3","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 C","year":"2015","journal-title":"Hum Genet."},{"key":"ref4","doi-asserted-by":"crossref","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 Giudice T","year":"2014","journal-title":"Exp Neurol."},{"issue":"3","key":"ref5","first-page":"219","article-title":"Clinical features and management of hereditary spastic paraplegia","volume":"72","author":"Faber I","year":"2014","journal-title":"ArqNeuropsiquiatr."},{"issue":"2","key":"ref6","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s12311-016-0803-z","article-title":"Hereditary spastic paraplegia: Clinical and genetic hallmarks","volume":"16","author":"Souza PV","year":"2017","journal-title":"Cerebellum"},{"issue":"7","key":"ref7","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1111\/ene.12423","article-title":"Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients","volume":"21","author":"M\u00fcller vom Hagen J","year":"2014","journal-title":"Eur J Neurol."},{"issue":"3B","key":"ref8","first-page":"809","article-title":"Machado-Joseph disease versus hereditary spastic paraplegia: case report","volume":"59","author":"Teive HA","year":"2001","journal-title":"ArqNeuropsiquiatr."},{"issue":"10","key":"ref9","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1016\/j.parkreldis.2015.07.015","article-title":"SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group","volume":"21","author":"Pedroso JL","year":"2015","journal-title":"Parkinsonism RelatDisord."},{"issue":"3","key":"ref10","first-page":"332","article-title":"Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways","volume":"32","author":"Synofzik M","year":"2017","journal-title":"MovDisord."},{"issue":"1","key":"ref11","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s12311-015-0755-8","article-title":"Non neurological involvement in late-onset Friedreich ataxia (LOFA): exploring the phenotypes","volume":"16","author":"Martinez AR","year":"2017","journal-title":"Cerebellum."},{"key":"ref12","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s10048-015-0439-z","article-title":"Milestones in Friedreich ataxia: more than a century and still learning","volume":"16","author":"Abrah\u00e3o A","year":"2015","journal-title":"Neurogenetics."},{"issue":"14","key":"ref13","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1212\/WNL.0b013e31826d5fb0","article-title":"Reviewing the genetic causes of spastic-ataxias","volume":"79","author":"Bot ST","year":"2012","journal-title":"Neurology."},{"issue":"2","key":"ref14","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.parkreldis.2013.10.014","article-title":"Adult onset alexander disease presenting with progressive spastic paraplegia","volume":"20","author":"Pedroso JL","year":"2013","journal-title":"Parkinsonism RelatDisord."},{"issue":"4","key":"ref15","first-page":"309","article-title":"Cerebellar ataxia as the first manifestation of Alexander's disease","volume":"70","author":"Rezende SA","year":"2012","journal-title":"ArqNeuropsiquiatr."},{"issue":"2","key":"ref16","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10545-014-9745-0","article-title":"Look carefully to the heels! A potentially treatable cause of spastic paraplegia","volume":"38","author":"Saute JA","year":"2015","journal-title":"J Inherit Metab Dis."},{"issue":"3","key":"ref17","first-page":"676","article-title":"BeitragezurPathologie des R\u00fcckenmarks","volume":"10","author":"Str\u00fcmpell A","year":"1880","journal-title":"Arch PsychiatrNervenkr."},{"key":"ref18","series-title":"Gro\u00dfeNervena rzte","first-page":"184","volume":"3","author":"Kolle K","year":"1963"},{"key":"ref19","first-page":"185","article-title":"Sklerose der Seintenstrange des R\u00fcckenmarksbeivierKindernderselbenFamilie","volume":"2","author":"Seeligmuller AS","year":"1876","journal-title":"Dtsch MedWochenschr."},{"issue":"10","key":"ref20","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1007\/s00415-012-6486-6","article-title":"Adolf von Str\u00fcmpell: a key neglected protagonist of neurology","volume":"259","author":"Engmann B","year":"2012","journal-title":"J Neurol."},{"issue":"2","key":"ref21","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/00005053-191608000-00004","article-title":"Family spastic paralysis","volume":"44","author":"Rhein JHW","year":"1916","journal-title":"J NervMent Dis."},{"issue":"3-4","key":"ref22","first-page":"129","article-title":"Parapl\u00e9gie, dystrophiesquelettique et d\u00e9g\u00e9n\u00e9rescencetap\u00e9to-r\u00e9tiniennefamiliales","volume":"22","author":"Jequier M","year":"1947","journal-title":"Archiv Julius Klaus-Stift ungVererbungsforschSozialanthropolRassenhyg."},{"issue":"2","key":"ref23","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1001\/archneur.1959.03840020007002","article-title":"Familial spastic paraplegia with amyotrophy, oligophrenia and central retinal degeneration","volume":"1","author":"Kjellin K","year":"1959","journal-title":"Arch Neurol."},{"issue":"12","key":"ref24","first-page":"795","article-title":"Studies on familial spastic paraplegia; classical forms with massive optic atrophy in certain members of the family of van L. and genetic considerations on spastic familial paraplegia","volume":"52","author":"Van BogaertL","year":"1952","journal-title":"ActaNeurolPsychiatr Belg."},{"issue":"6767","key":"ref25","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/S0140-6736(53)92061-3","article-title":"Hereditary spastic paraplegia: report of a family with associated extrapyramidal signs","volume":"1","author":"Dick AP","year":"1953","journal-title":"Lancet."},{"key":"ref26","first-page":"83","article-title":"A sex-linked recessive form of spastic paraplegia","volume":"14","author":"Johnston AW","year":"1962","journal-title":"Am J Hum Genet."},{"issue":"2","key":"ref27","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1136\/jnnp.29.2.135","article-title":"Familial spastic paraplegia with amyotrophy of the hands","volume":"29","author":"Silver JR","year":"1966","journal-title":"J NeurolNeurosurg Psychiatry."},{"issue":"1","key":"ref28","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jnnp.37.1.8","article-title":"Str\u00fcmpell's familial spastic paraplegia: genetics and neuropathology","volume":"37","author":"Behan WM","year":"1974","journal-title":"J NeurolNeurosurg Psychiatry."},{"key":"ref29","series-title":"Treasury of human inheritance","first-page":"141","volume-title":"On hereditary ataxia and spastic paraplegia","volume":"4","author":"Bell J","year":"1939"},{"issue":"10","key":"ref30","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jnnp.44.10.871","article-title":"Hereditary \u201cpure\u201d spastic paraplegia: a clinical and genetic study of 22 families","volume":"44","author":"Harding AE","year":"1981","journal-title":"J NeurolNeurosurg Psychiatry."},{"issue":"12","key":"ref31","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/S1474-4422(08)70258-8","article-title":"Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms","volume":"7","author":"Salinas S","year":"2008","journal-title":"Lancet Neurol."},{"issue":"8334","key":"ref32","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding AE","year":"1983","journal-title":"Lancet"},{"issue":"6","key":"ref33","first-page":"519","article-title":"Anita Harding obituary","volume":"5","author":"Dubowitz V","year":"1995","journal-title":"NeuromuscDisord."},{"issue":"3","key":"ref34","doi-asserted-by":"crossref","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 R","year":"2006","journal-title":"Neurology."},{"issue":"1","key":"ref35","first-page":"227","article-title":"Uebereinebestimmte Form der primarenkombinierten Systemerkrankung des R\u00fcckenmarks","volume":"17","author":"Str\u00fcmpell A","year":"1886","journal-title":"Arch PsychiatrNervenkr."},{"issue":"3-4","key":"ref36","first-page":"291","article-title":"Die primareSeitenstrangsklerose (spastischeSpinalparalyse)","volume":"27","author":"Str\u00fcmpell A","year":"1904","journal-title":"Deutsche ZtschrNervenh."},{"issue":"5","key":"ref37","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1001\/archneurpsyc.1952.02320230081010","article-title":"Hereditary (familial) spastic paraplegia","volume":"68","author":"Schwarz GA","year":"1952","journal-title":"Arch Neurol Psychiatry."},{"issue":"5-6","key":"ref38","first-page":"419","article-title":"KlinischerBericht\u00fcber den siebenten Fall von spastischerParaplegie in einerFamilie und Ergebnis der drittenAutopsieausderselbenFamilie","volume":"42","author":"Newmark L","year":"1911","journal-title":"Deutsche ZtschrNervenh."},{"key":"ref39","first-page":"665","article-title":"Sobre un caso de paraplegia espasm\u00f3dica familiar progresivaconexamenhistopatologico completo","volume":"17","author":"Jakob C","year":"1909","journal-title":"RevSocMed Arg."},{"issue":"1","key":"ref40","first-page":"774","article-title":"Klinischer undhistopathologischer Beitragzurhereditarenspastischen Spinalparalyse","volume":"159","author":"Kahlstorf A","year":"1937","journal-title":"Z GesamteNeurolPsychiatr."},{"issue":"suppl 1","key":"ref41","doi-asserted-by":"crossref","first-page":"S106","DOI":"10.1016\/j.expneurol.2003.08.005","article-title":"Advances in the hereditary spastic paraplegias","volume":"184","author":"Fink JK","year":"2003","journal-title":"Exp Neurol."},{"issue":"6","key":"ref42","first-page":"576","article-title":"The extent of axonal loss in the long tracts in hereditary spastic paraplegia","volume":"30","author":"Deluca GC","year":"2004","journal-title":"NeuropatholApplNeurobiol."},{"issue":"1","key":"ref43","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1148\/radiol.14141715","article-title":"Hereditary spastic paraplegia: beyond clinical phenotypes toward a unified pattern of central nervous system damage","volume":"276","author":"Agosta F","year":"2015","journal-title":"Radiology."},{"issue":"8","key":"ref44","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1007\/s00415-015-7791-7","article-title":"Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinicalcorrelations","volume":"262","author":"Lindig T","year":"2015","journal-title":"J Neurol."},{"issue":"2","key":"ref45","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0117666","article-title":"Multimodal MRI-based study in patients with SPG4 mutations","volume":"10","author":"Rezende TJ","year":"2015","journal-title":"PLoS One."},{"issue":"8","key":"ref46","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jnnp-2011-300129","article-title":"White and grey matter abnormalities in patients with SPG11 mutations","volume":"83","author":"Fran\u00e7a Jr MC","year":"2012","journal-title":"J NeurolNeurosurg Psychiatry."},{"issue":"5","key":"ref47","doi-asserted-by":"crossref","first-page":"990","DOI":"10.3174\/ajnr.A3330","article-title":"Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation","volume":"34","author":"Pan MK","year":"2013","journal-title":"AJNR Am J Neuroradiol."},{"issue":"9","key":"ref48","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/jnnp.54.9.775","article-title":"Central motor conduction studies in hereditary spastic paraplegia","volume":"54","author":"Schady W","year":"1991","journal-title":"J NeurolNeurosurg Psych."},{"issue":"3","key":"ref49","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng0794-402","article-title":"X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene","volume":"7","author":"Jouet M","year":"1994","journal-title":"Nat Genet."},{"issue":"3","key":"ref50","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","article-title":"Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia","volume":"23","author":"Hazan J","year":"1999","journal-title":"Nat Genet."},{"issue":"5369","key":"ref51","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1126\/science.280.5369.1610","article-title":"Axonal swellings and degeneration in mice lacking the major proteolipid of myelin","volume":"280","author":"Griffiths I","year":"1998","journal-title":"Science."},{"issue":"6","key":"ref52","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease","volume":"93","author":"Casari G","year":"1998","journal-title":"Cell."},{"issue":"3","key":"ref53","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/ng1980","article-title":"Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum","volume":"39","author":"Stevanin G","year":"2007","journal-title":"Nat Genet."},{"issue":"7","key":"ref54","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1093\/brain\/aww111","article-title":"Genetic and phenotypic characterization of complex hereditary spastic paraplegia","volume":"139","author":"Kara E","year":"2016","journal-title":"Brain."},{"issue":"6170","key":"ref55","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 G","year":"2014","journal-title":"Science."},{"issue":"4","key":"ref56","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1002\/ana.24611","article-title":"Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients","volume":"79","author":"Sch\u00fcle R","year":"2016","journal-title":"Ann Neurol."},{"issue":"3B","key":"ref57","first-page":"790","article-title":"Hereditary spastic paraplegia associated with thin corpus callosum","volume":"59","author":"Teive HA","year":"2001","journal-title":"ArqNeuropsiquiatr."},{"issue":"1","key":"ref58","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1086\/510782","article-title":"Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia","volume":"80","author":"Valdmanis PN","year":"2007","journal-title":"Am J Hum Genet."},{"issue":"2","key":"ref59","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1111\/cge.12252","article-title":"SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil","volume":"86","author":"Fran\u00e7a Jr MC","year":"2014","journal-title":"Clin Genet."},{"issue":"24","key":"ref60","first-page":"6877","article-title":"Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome","volume":"24","author":"Melo US","year":"2015","journal-title":"Hum Mol Genet."}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v75n11\/0004-282X-anp-75-11-0813.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,3]],"date-time":"2018-01-03T22:21:29Z","timestamp":1515018089000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2017001100813&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":60,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S0004-282X2017001100813"],"URL":"https:\/\/doi.org\/10.1590\/0004-282x20170160","relation":{},"ISSN":["1678-4227","0004-282X"],"issn-type":[{"value":"1678-4227","type":"electronic"},{"value":"0004-282X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]}}}