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Complex hereditary spastic paraplegia

MedGen UID:
581446
Concept ID:
C0393556
Disease or Syndrome
Synonyms: Complex familial spastic paraplegia; complex hereditary spastic paraplegia; Complex HSP; Complex SPG; Complicated familial spastic paraplegia; complicated familial spastic paraplegia; Complicated hereditary spastic paraplegia; complicated hereditary spastic paraplegia; Complicated HSP; complicated HSP; Complicated SPG; complicated SPG; syndrome associated with hereditary spastic paraplegia; syndromic hereditary spastic paraplegia
SNOMED CT: Complicated hereditary spastic paraplegia (230261006)
 
Monarch Initiative: MONDO:0015150
Orphanet: ORPHA102013

Definition

A hereditary spastic paraplegia that is part of a larger syndrome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Complex hereditary spastic paraplegia

Professional guidelines

PubMed

Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H
Eur J Neurol 2008 Oct;15(10):1065-70. Epub 2008 Aug 20 doi: 10.1111/j.1468-1331.2008.02247.x. PMID: 18717728Free PMC Article

Recent clinical studies

Etiology

Chou YT, Hsu SL, Tsai YS, Lu YJ, Yu KW, Wu HM, Liao YC, Lee YC
Ann Clin Transl Neurol 2023 Sep;10(9):1603-1612. Epub 2023 Jul 7 doi: 10.1002/acn3.51850. PMID: 37420318Free PMC Article
Cohen-Barak E, Danial-Farran N, Chervinsky E, Alimi-Kasem O, Zagairy F, Livneh I, Mawassi B, Hreish M, Khayat M, Lossos A, Meiner V, Ehilevitch N, Weiss K, Shalev S
J Med Genet 2023 Mar;60(3):233-240. Epub 2022 Jun 16 doi: 10.1136/jmedgenet-2022-108508. PMID: 35710109
Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, Matsumoto N
Clin Genet 2022 Mar;101(3):359-363. Epub 2021 Dec 13 doi: 10.1111/cge.14097. PMID: 34866177
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048Free PMC Article
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
Brain 2016 Jul;139(Pt 7):1904-18. Epub 2016 May 23 doi: 10.1093/brain/aww111. PMID: 27217339Free PMC Article

Diagnosis

Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST
Brain 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. PMID: 37043503Free PMC Article
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D
Mov Disord 2022 Dec;37(12):2440-2446. Epub 2022 Sep 14 doi: 10.1002/mds.29225. PMID: 36103453Free PMC Article
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048Free PMC Article
Tranchant C, Koob M, Anheim M
Parkinsonism Relat Disord 2017 Jun;39:4-16. Epub 2017 Feb 22 doi: 10.1016/j.parkreldis.2017.02.025. PMID: 28256436
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
Brain 2016 Jul;139(Pt 7):1904-18. Epub 2016 May 23 doi: 10.1093/brain/aww111. PMID: 27217339Free PMC Article

Prognosis

Alecu JE, Saffari A, Jumo H, Ziegler M, Strelko O, Brownstein CA, Gonzalez-Heydrich J, Rodan LH, Gorman MP, Sahin M, Ebrahimi-Fakhari D
Ann Clin Transl Neurol 2022 Apr;9(4):570-576. Epub 2022 Mar 16 doi: 10.1002/acn3.51531. PMID: 35297214Free PMC Article
Tanti M, Cairns D, Mirza N, McCann E, Young C
Neurogenetics 2020 Oct;21(4):305-308. Epub 2020 Jun 5 doi: 10.1007/s10048-020-00619-0. PMID: 32500351
Tranchant C, Koob M, Anheim M
Parkinsonism Relat Disord 2017 Jun;39:4-16. Epub 2017 Feb 22 doi: 10.1016/j.parkreldis.2017.02.025. PMID: 28256436
Butler S, Helbig KL, Alcaraz W, Seaver LH, Hsieh DT, Rohena L
Am J Med Genet A 2016 Jul;170(7):1780-5. Epub 2016 Apr 26 doi: 10.1002/ajmg.a.37658. PMID: 27112432
Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A
Neurology 2008 Apr 15;70(16 Pt 2):1384-9. Epub 2008 Mar 12 doi: 10.1212/01.wnl.0000294327.66106.3d. PMID: 18337587Free PMC Article

Clinical prediction guides

Launay N, Espinosa-Alcantud M, Verdura E, Fernández-Eulate G, Ondaro J, Iruzubieta P, Marsal M, Schlüter A, Ruiz M, Fourcade S, Rodríguez-Palmero A, Zulaica M, Sistiaga A, Labayru G, Loza-Alvarez P, Vaquero A, Lopez de Munain A, Pujol A
Aging Cell 2025 Jan;24(1):e14355. Epub 2024 Oct 16 doi: 10.1111/acel.14355. PMID: 39412222Free PMC Article
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D
Mov Disord 2022 Dec;37(12):2440-2446. Epub 2022 Sep 14 doi: 10.1002/mds.29225. PMID: 36103453Free PMC Article
Alecu JE, Saffari A, Jumo H, Ziegler M, Strelko O, Brownstein CA, Gonzalez-Heydrich J, Rodan LH, Gorman MP, Sahin M, Ebrahimi-Fakhari D
Ann Clin Transl Neurol 2022 Apr;9(4):570-576. Epub 2022 Mar 16 doi: 10.1002/acn3.51531. PMID: 35297214Free PMC Article
Khorrami M, Tabatabaiefar MA, Khorram E, Yaghini O, Rezaei M, Hejazifar A, Riahinezhad M, Kheirollahi M
J Hum Genet 2021 Oct;66(10):973-981. Epub 2021 Mar 25 doi: 10.1038/s10038-021-00919-9. PMID: 33767317
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
Brain 2016 Jul;139(Pt 7):1904-18. Epub 2016 May 23 doi: 10.1093/brain/aww111. PMID: 27217339Free PMC Article

Recent systematic reviews

Tranchant C, Koob M, Anheim M
Parkinsonism Relat Disord 2017 Jun;39:4-16. Epub 2017 Feb 22 doi: 10.1016/j.parkreldis.2017.02.025. PMID: 28256436

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