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Spastic paraplegia 70, autosomal recessive(SPG70)

MedGen UID:
1008527
Concept ID:
CN327016
Disease or Syndrome
Synonym: SPG70
 
Gene (location): MARS1 (12q13.3)
 
Monarch Initiative: MONDO:0957221
OMIM®: 620323

Definition

Autosomal recessive spastic paraplegia-70 (SPG70) is characterized by onset of symptoms in infancy, including delayed walking and difficulties walking due to spasticity of the lower limbs; upper limbs may also be involved. Additional features may include global developmental delay with variably impaired intellectual development, speech delay, feeding difficulties, and dysmorphic facial features (Okamoto et al., 2022). [from OMIM]

Recent clinical studies

Etiology

Chojdak-Łukasiewicz J, Sulima K, Zimny A, Waliszewska-Prosół M, Budrewicz S
Int J Mol Sci 2023 Dec 15;24(24) doi: 10.3390/ijms242417530. PMID: 38139357Free PMC Article
Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM
Hum Genet 2019 Oct;138(10):1183-1200. Epub 2019 Aug 30 doi: 10.1007/s00439-019-02057-x. PMID: 31471722Free PMC Article
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A
Eur J Neurol 2019 Jan;26(1):80-86. Epub 2018 Sep 3 doi: 10.1111/ene.13768. PMID: 30098094
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
Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP
J Neurol Sci 1996 May;137(2):131-8. doi: 10.1016/0022-510x(95)00349-7. PMID: 8782167

Diagnosis

Chojdak-Łukasiewicz J, Sulima K, Zimny A, Waliszewska-Prosół M, Budrewicz S
Int J Mol Sci 2023 Dec 15;24(24) doi: 10.3390/ijms242417530. PMID: 38139357Free PMC Article
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J
Parkinsonism Relat Disord 2020 Aug;77:70-75. Epub 2020 Jun 29 doi: 10.1016/j.parkreldis.2020.06.027. PMID: 32629324
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531
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
Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP
J Neurol Sci 1996 May;137(2):131-8. doi: 10.1016/0022-510x(95)00349-7. PMID: 8782167

Prognosis

Bellini G, Del Prete E, Unti E, Frosini D, Siciliano G, Ceravolo R
BMC Neurol 2021 Aug 25;21(1):328. doi: 10.1186/s12883-021-02345-y. PMID: 34433436Free PMC Article
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J
Parkinsonism Relat Disord 2020 Aug;77:70-75. Epub 2020 Jun 29 doi: 10.1016/j.parkreldis.2020.06.027. PMID: 32629324
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S
BMC Neurol 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. PMID: 31656170Free PMC Article
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A
Eur J Neurol 2019 Jan;26(1):80-86. Epub 2018 Sep 3 doi: 10.1111/ene.13768. PMID: 30098094
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531

Clinical prediction guides

Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J
Parkinsonism Relat Disord 2020 Aug;77:70-75. Epub 2020 Jun 29 doi: 10.1016/j.parkreldis.2020.06.027. PMID: 32629324
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A
Eur J Neurol 2019 Jan;26(1):80-86. Epub 2018 Sep 3 doi: 10.1111/ene.13768. PMID: 30098094
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531
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
Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP
J Neurol Sci 1996 May;137(2):131-8. doi: 10.1016/0022-510x(95)00349-7. PMID: 8782167

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