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SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE(SPG93)

MedGen UID:
1053796
Concept ID:
CN378513
Disease or Syndrome
Synonym: SPG93
 
OMIM®: 620938

Definition

Autosomal recessive spastic paraplegia-93 (SPG93) is characterized by a spectrum of early-onset pure to complex hereditary spastic paraplegia phenotypes associated with a longer survival on one end and neurodevelopmental delay with severe hypotonia on the other (summary by Kaiyrzhanov et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. [from OMIM]

Recent clinical studies

Etiology

Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S
Mov Disord 2024 Aug;39(8):1343-1351. Epub 2024 Jun 7 doi: 10.1002/mds.29871. PMID: 38847051
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC
AJNR Am J Neuroradiol 2019 Jan;40(1):199-203. Epub 2019 Jan 3 doi: 10.3174/ajnr.A5935. PMID: 30606727Free PMC Article
Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G
Am J Hum Genet 2013 Jul 11;93(1):118-23. Epub 2013 Jun 6 doi: 10.1016/j.ajhg.2013.05.006. PMID: 23746551Free 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

Diagnosis

Beichert L, Ilg W, Kessler C, Traschütz A, Reich S, Santorelli FM, Başak AN, Gagnon C; PROSPAX Consortium, Schüle R, Synofzik M
Mov Disord 2024 Sep;39(9):1544-1555. Epub 2024 Jun 7 doi: 10.1002/mds.29876. PMID: 38847438
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S
Mov Disord 2024 Aug;39(8):1343-1351. Epub 2024 Jun 7 doi: 10.1002/mds.29871. PMID: 38847051
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC
AJNR Am J Neuroradiol 2019 Jan;40(1):199-203. Epub 2019 Jan 3 doi: 10.3174/ajnr.A5935. PMID: 30606727Free 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
Kuberski T, Tetava P, Koteka G
N Z Med J 1981 Mar 25;93(680):187-8. PMID: 6941104

Prognosis

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

Clinical prediction guides

Beichert L, Ilg W, Kessler C, Traschütz A, Reich S, Santorelli FM, Başak AN, Gagnon C; PROSPAX Consortium, Schüle R, Synofzik M
Mov Disord 2024 Sep;39(9):1544-1555. Epub 2024 Jun 7 doi: 10.1002/mds.29876. PMID: 38847438
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC
AJNR Am J Neuroradiol 2019 Jan;40(1):199-203. Epub 2019 Jan 3 doi: 10.3174/ajnr.A5935. PMID: 30606727Free 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

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