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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(11): 813-818
DOI: 10.1590/0004-282X20170160
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Hereditary spastic paraplegia from 1880 to 2017: an historical review

Paraplegia espástica hereditária de 1880 a 2017: uma revisão histórica
Ingrid Faber
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil
,
Eduardo Rafael Pereira
2   Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Medicina Interna, Serviço de Neurologia, Setor de Distúrbios do Movimento, Curitiba PR, Brasil.
,
Alberto R. M. Martinez
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil
,
Marcondes França Jr
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brasil
,
Hélio Afonso Ghizoni Teive
2   Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Medicina Interna, Serviço de Neurologia, Setor de Distúrbios do Movimento, Curitiba PR, Brasil.
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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 Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.

RESUMO

Os autores constroem uma breve linha do tempo com as principais pesquisas clinicas relacionadas as paraplegias espásticas hereditárias. Desde a descrição clínica inicial em 1880, feita por Adolf von Strümpell, até os dias atuais com a transformação dessas doenças em um grupo de doenças neurogenéticas com grande variabilidade na apresentação fenotípica e genotípica.

Keywords:

hereditary spastic paraplegia - timeline - review

Palavras-chave:

paraplegia espástica hereditária - linha do tempo - revisão


Publication History

Received: 03 July 2017

Accepted: 24 August 2017

Article published online:
01 September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Fink JK. Hereditary spastic paraplegia: clinical principles and genetic advances. Semin Neurol. 2014;34(3):293-305. https://doi.org/10.1055/s-0034-1386767
  • 2 Klebe S, Stevanin G, Depienne C. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol(Paris). 2015;171 (6-7):505-30. https://doi.org/10.1016/j.neurol.2015.02.017
  • 3 Tesson C, Koht J, Stevanin G. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet. 2015;134(6):51 1-38. https://doi.org/10.1007/s00439-015-1536-7
  • 4 Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014;261:518-39. https://doi.org/10.1016/j.expneurol.2014.06.011
  • 5 Faber I,Servelhere KR, Martinez ARM, D’Abreu A, Lopes-Cendes I, França MC Jr. Clinical features and management of hereditary spastic paraplegia. ArqNeuropsiquiatr. 2014;72(3):219-26. https://doi.org/10.1590/0004-282X20130248
  • 6 Souza PV, de Rezende Pinto WB, de Rezende Batistella GN, Bortholin T, Oliveira AS. Hereditary spastic paraplegia: Clinical and genetic hallmarks. Cerebellum 2017;16 (2):525-51. https://doi.org/10.1007/s12311-016-0803-z
  • 7 Müller vom Hagen J, Karle KN, Schüle R, Krägeloh-Mann I, Schöls L. Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. Eur J Neurol.. 2014;21(7):983-8. https://doi.org/10.1111/ene.12423
  • 8 Teive HA, Iwamoto FM, Camargo CH, Lopes-Cendes I, Werneck LC. Machado-Joseph disease versus hereditary spastic paraplegia: case report. ArqNeuropsiquiatr. 2001;59(3B):809-11. https://doi.org/10.1590/S0004-282X2001000500030
  • 9 Pedroso JL, Souza PV, Pinto WB, Braga-Neto P, Albuquerque MV, Saraiva-Pereira ML et al. SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group. Parkinsonism RelatDisord. 2015;21(10):1243-6. https://doi.org/10.1016/j.parkreldis.2015.07.015
  • 10 Synofzik M, Schüle R. Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways. MovDisord. 2017;32(3):332-45. https://doi.org/10.1002/mds.26944
  • 11 Martinez AR, Moro A, Abrahao A, Faber I, Borges CR, Rezende TJ et al. Non neurological involvement in late-onset Friedreich ataxia (LOFA): exploring the phenotypes. Cerebellum. 2017;1 6 (1):253-56. https://doi.org/10.1007/s12311-015-0755-8
  • 12 Abrahão A, Pedroso JL, Braga-Neto P, Bor SengShu E, Carvalho PA, Barsottini OG. Milestones in Friedreich ataxia: more than a century and still learning. Neurogenetics. 2015;16:151-60. https://doi.org/10.1007/s10048-015-0439-z
  • 13 Bot ST, Willemsen MA, Vermeer S, Kremer HP, Warrenburg BP. Reviewing the genetic causes of spastic-ataxias. Neurology. 2012;79(14):1507-14. https://doi.org/10.1212/WNL.0b013e31826d5fb0
  • 14 Pedroso JL, Raskin S, Barsottini OGP, Oliveira ASB. Adult onset Alexander disease presenting with progressive spastic paraplegia. Parkinsonism RelatDisord. 2013;20(2):241-2. https://doi.org/10.1016/j.parkreldis.2013.10.014
  • 15 Rezende SA, Fernandes M, Munhoz RP, Raskin S, Schelp AO, Knaap MS et al. Cerebellar ataxia as the first manifestation of Alexander's disease. ArqNeuropsiquiatr. 2012;70(4):309-10. https://doi.org/10.1590/S0004-282X2012000400018
  • 16 Saute JA, Giugliani R, Merkens LS, Chiang JP, DeBarber AE, Souza CF. Look carefully to the heels! A potentially treatable cause of spastic paraplegia. J Inherit Metab Dis. 2015;38(2):363-4. https://doi.org/10.1007/s10545-014-9745-0
  • 17 Strümpell A. BeitragezurPathologie des Rückenmarks. Arch PsychiatrNervenkr. 1880;10(3):676-717. https://doi.org/10.1007/BF02224539
  • 18 Kolle K, editor. GroßeNervena rzte, vol 3. Stuttgart: Thieme; 1963. Adolf Struümpell (1853-1925), p. 184-190.
  • 19 Seeligmuller AS. Sklerose der Seintenstrange des RückenmarksbeivierKindernderselbenFamilie. Dtsch MedWochenschr.1876;2:185-6.
  • 20 Engmann B, Wagner A, Steinberg H. Adolf von Strümpell: a key neglected protagonist of neurology. J Neurol. 2012;259(10):221 1-20. https://doi.org/10.1007/s00415-012-6486-6
  • 21 Rhein, JHW. Family spastic paralysis. J NervMent Dis. 1916;44(2):115-44,224-42.
  • 22 Jequier M, Streiff EB. Paraplégie, dystrophiesquelettique et dégénérescencetapéto-rétiniennefamiliales. Archiv Julius Klaus-Stift ungVererbungsforschSozialanthropolRassenhyg. 1947;22(3-4):129-67.
  • 23 Kjellin K. Familial spastic paraplegia with amyotrophy, oligophrenia and central retinal degeneration. Arch Neurol. 1959;1(2):133-40. https://doi.org/10.1001/archneur.1959.03840020007002
  • 24 Van BogaertL.. 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. ActaNeurolPsychiatr Belg. 1952;52(12):795-807. French.
  • 25 Dick AP, Stevenson CJ. Hereditary spastic paraplegia: report of a family with associated extrapyramidal signs. Lancet. 1953;1(6767):921-3. https://doi.org/10.1016/S0140-6736(53)92061-3
  • 26 Johnston, AW, McKusick VA. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet. 1962;14:83-94.
  • 27 Silver, JR. Familial spastic paraplegia with amyotrophy of the hands. J NeurolNeurosurg Psychiatry. 1966;29(2):135-44.
  • 28 Behan WM, Maia M Strümpell's familial spastic paraplegia: genetics and neuropathology. J NeurolNeurosurg Psychiatry. 1974;37(1):8-20. https://doi.org/10.1136/jnnp.37.1.8
  • 29 Bell J. On hereditary ataxia and spastic paraplegia. In: Lewis T, Bulloch W. Treasury of human inheritance. London: Cambridge University Press; 1939. Vol. 4, p. 141-281.
  • 30 Harding AE. Hereditary “pure” spastic paraplegia: a clinical and genetic study of 22 families. J NeurolNeurosurg Psychiatry. 1981;44(10):871-83. https://doi.org/10.1136/jnnp.44.10.871
  • 31 Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008;7(12):1 127-38. https://doi.org/10.1016/S1474-4422(08)70258-8
  • 32 Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1(8334):1151-5. https://doi.org/10.1016/S0140-6736(83)92879-9
  • 33 Dubowitz V. Anita Harding obituary. NeuromuscDisord. 1995;5(6):519-20. https://doi.org/10.1016/0960-8966(95)90017-9
  • 34 Schüle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V et al. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology. 2006;67(3):430-4. https://doi.org/10.1212/01.wnl.0000228242.53336.90
  • 35 Strümpell A. Uebereinebestimmte Form der primarenkombinierten Systemerkrankung des Rückenmarks. Arch PsychiatrNervenkr. 1886;17(1):227-38. https://doi.org/10.1007/BF02172796
  • 36 Strümpell A. Die primareSeitenstrangsklerose (spastischeSpinalparalyse). Deutsche ZtschrNervenh. 1904;27(3-4):291-339. https://doi.org/10.1007/BF01667115
  • 37 Schwarz GA. Hereditary (familial) spastic paraplegia. Arch Neurol Psychiatry. 1952;68(5):655-62. https://doi.org/10.1001/archneurpsyc.1952.02320230081010
  • 38 Newmark L. KlinischerBerichtüber den siebenten Fall von spastischerParaplegie in einerFamilie und Ergebnis der drittenAutopsieausderselbenFamilie. Deutsche ZtschrNervenh. 1911;42(5-6):419-31. https://doi.org/10.1007/BF01629416
  • 39 Jakob C. Sobre un caso de paraplegia espasmódica familiar progresivaconexamenhistopatologico completo. RevSocMed Arg. 1909;17:665-703.
  • 40 Kahlstorf A. Klinischer undhistopathologischer Beitragzurhereditarenspastischen Spinalparalyse. Z GesamteNeurolPsychiatr. 1937;159(1):774-80. https://doi.org/10.1007/BF02870699
  • 41 Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003;184 (suppl 1):S106-10. https://doi.org/10.1016/j.expneurol.2003.08.005
  • 42 Deluca GC, Ebers GC, Esiri MM. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. NeuropatholApplNeurobiol. 2004;30(6):576-84.https://doi.org/10.1111/j.1365-2990.2004.00587.x
  • 43 Agosta F, Scarlato M, Spinelli EG, Canu E, Benedetti S, Bassi MT et al. Hereditary spastic paraplegia: beyond clinical phenotypes toward a unified pattern of central nervous system damage. Radiology. 2015;276(1):207-18. https://doi.org/10.1148/radiol.14141715
  • 44 Lindig T, Bender B, Hauser TK, Mang S, Schweikardt D, Klose U et al. Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinicalcorrelations. J Neurol. 2015;262(8):1961-71. https://doi.org/10.1007/s00415-015-7791-7
  • 45 Rezende TJ, de Albuquerque M, Lamas GM, Martinez AR, Campos BM, Casseb RF et al. Multimodal MRI-based study in patients with SPG4 mutations. PLoS One. 2015;10(2):e01 17666. https://doi.org/10.1371/journal.pone.0117666
  • 46 França MC Jr, Yasuda CL, Pereira FR, D’Abreu A, Lopes-Ramos CM, Rosa MVet al. White and grey matter abnormalities in patients with SPG11 mutations. J NeurolNeurosurg Psychiatry. 2012;83(8):828-33. https://doi.org/10.1136/jnnp-2011-300129
  • 47 Pan MK, Huang SC, Lo YC, Yang CC, Cheng TW, Yang CC et al. Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation. AJNR Am J Neuroradiol. 2013;34(5):990-6. https://doi.org/10.3174/ajnr.A3330
  • 48 Schady W, Dick JPR, Crampton SA. Central motor conduction studies in hereditary spastic paraplegia. J NeurolNeurosurg Psych. 1991;54(9):775-9. https://doi.org/10.1136/jnnp.54.9J75
  • 49 Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994;7(3):402-7. https://doi.org/10.1038/ng0794-402
  • 50 Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999;23(3):296-303. https://doi.org/10.1038/15472
  • 51 Griffiths I, Klugmann M, Anderson T, Yool D, Thomson C, Schwab MH et al. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science. 1998;280(5369):1610-3. https://doi.org/10.1126/science.280.5369.1610
  • 52 Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998;93(6):973-83. https://doi.org/10.1016/S0092-8674(00)81203-9
  • 53 Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007;39(3):366-72. https://doi.org/10.1038/ng1980
  • 54 Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2016;139(7):1904-18. https://doi.org/10.1093/brain/aww111
  • 55 Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014;343(6170):506-11. https://doi.org/10.1126/science.1247363
  • 56 Schüle R, Wiethoff S, Martus P Karle KN, Otto S, Klebe S et al. Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients. Ann Neurol. 2016;79(4):646-58. https://doi.org/10.1002/ana.24611
  • 57 Teive HA, Iwamoto FM, Della Coletta MV, Camargo CH, Bezerra RD, Minguetti G et al. Hereditary spastic paraplegia associated with thin corpus callosum. ArqNeuropsiquiatr. 2001;59(3B):790-2. https://doi.org/10.1590/S0004-282X2001000500025
  • 58 Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007;80(1):152-61. https://doi.org/10.1086/510782
  • 59 França MC Jr, Dogini DB, D’Abreu A, Teive HA, Munhoz RP, Raskin S et al. SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil. Clin Genet. 2014;86(2):194-6. https://doi.org/10.1111/cge.12252
  • 60 Melo US, Macedo-Souza LI, Figueiredo T,Muotri AR, Gleeson JG, Coux G et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet. 2015;24(24):6877-85. https://doi.org/10.1093/hmg/ddv388