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X-linked pure spastic paraplegia

MedGen UID:
1842959
Concept ID:
C5680963
Disease or Syndrome
Orphanet: ORPHA320332

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked pure spastic paraplegia

Professional guidelines

PubMed

Osorio MJ, Rowitch DH, Tesar P, Wernig M, Windrem MS, Goldman SA
Stem Cells 2017 Feb;35(2):311-315. Epub 2016 Nov 23 doi: 10.1002/stem.2530. PMID: 27882623Free PMC Article
Faber I, Servelhere KR, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr
Arq Neuropsiquiatr 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248. PMID: 24676440
Fink JK, Hedera P
Semin Neurol 1999;19(3):301-9. doi: 10.1055/s-2008-1040846. PMID: 12194386

Recent clinical studies

Etiology

Parodi L, Fenu S, Stevanin G, Durr A
Rev Neurol (Paris) 2017 May;173(5):352-360. Epub 2017 Apr 24 doi: 10.1016/j.neurol.2017.03.034. PMID: 28449883
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
Faber I, Servelhere KR, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr
Arq Neuropsiquiatr 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248. PMID: 24676440
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G
J Neurol Sci 2012 Jul 15;318(1-2):1-18. Epub 2012 May 1 doi: 10.1016/j.jns.2012.03.025. PMID: 22554690
Roşulescu E, Stănoiu C, Buteică E, Stănoiu B, Burada F, Zăvăleanu M
Rom J Morphol Embryol 2009;50(2):299-303. PMID: 19434327

Diagnosis

Osório MJ, Goldman SA
Handb Clin Neurol 2018;148:701-722. doi: 10.1016/B978-0-444-64076-5.00045-4. PMID: 29478609Free PMC Article
Parodi L, Fenu S, Stevanin G, Durr A
Rev Neurol (Paris) 2017 May;173(5):352-360. Epub 2017 Apr 24 doi: 10.1016/j.neurol.2017.03.034. PMID: 28449883
Faber I, Servelhere KR, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr
Arq Neuropsiquiatr 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248. PMID: 24676440
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G
J Neurol Sci 2012 Jul 15;318(1-2):1-18. Epub 2012 May 1 doi: 10.1016/j.jns.2012.03.025. PMID: 22554690
Roşulescu E, Stănoiu C, Buteică E, Stănoiu B, Burada F, Zăvăleanu M
Rom J Morphol Embryol 2009;50(2):299-303. PMID: 19434327

Prognosis

Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P
Neurogenetics 2012 Aug;13(3):215-27. Epub 2012 May 3 doi: 10.1007/s10048-012-0329-6. PMID: 22552817
Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia
BMC Neurol 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. PMID: 20932283Free PMC Article
Olmez A, Uyanik G, Ozgül RK, Gross C, Cirak S, Elibol B, Anlar B, Winner B, Hehr U, Topaloglu H, Winkler J
Neuropediatrics 2006 Apr;37(2):59-66. doi: 10.1055/s-2006-923982. PMID: 16773502
Coutinho P, Barros J, Zemmouri R, Guimarães J, Alves C, Chorão R, Lourenço E, Ribeiro P, Loureiro JL, Santos JV, Hamri A, Paternotte C, Hazan J, Silva MC, Prud'homme JF, Grid D
Arch Neurol 1999 Aug;56(8):943-9. doi: 10.1001/archneur.56.8.943. PMID: 10448799
Bonneau D, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M
J Med Genet 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381. PMID: 8320699Free PMC Article

Clinical prediction guides

Parodi L, Fenu S, Stevanin G, Durr A
Rev Neurol (Paris) 2017 May;173(5):352-360. Epub 2017 Apr 24 doi: 10.1016/j.neurol.2017.03.034. PMID: 28449883
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
Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M
Am J Med Genet 2002 Aug 1;111(2):152-6. doi: 10.1002/ajmg.10551. PMID: 12210342
Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF
Neurology 1996 Apr;46(4):1112-7. doi: 10.1212/wnl.46.4.1112. PMID: 8780101
Bonneau D, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M
J Med Genet 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381. PMID: 8320699Free PMC Article

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