Spastic paraplegia 70, autosomal recessive(SPG70)

MedGen UID:: 1008527
•Concept ID:: CN327016
•: Disease or Syndrome

Synonym:	SPG70

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.

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: 38139357 Free PMC Article

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

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: 31471722 Free PMC Article

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

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

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

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: 27217339 Free PMC Article

Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.

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

See all (8)

Diagnosis

Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.

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: 38139357 Free PMC Article

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

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

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

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

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.

Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC
JAMA Neurol 2013 Jun;70(6):746-55. doi: 10.1001/jamaneurol.2013.1707. PMID: 23609960

See all (13)

Prognosis

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H
Brain 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. PMID: 38527963 Free PMC Article

Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C.

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: 34433436 Free PMC Article

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

See all (8)