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Autosomal recessive pure spastic paraplegia

MedGen UID:
1842715
•Concept ID:
C5680376
•
Disease or Syndrome
Synonyms: Autosomal recessive pure HSP; Autosomal recessive pure SPG; Autosomal recessive uncomplicated HSP; Autosomal recessive uncomplicated spastic paraplegia; Autosomal recessive uncomplicated SPG
 
Orphanet: ORPHA100982

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive pure spastic paraplegia

Professional guidelines

PubMed

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS
Acta Neuropathol 2023 Aug;146(2):353-368. Epub 2023 Apr 29 doi: 10.1007/s00401-023-02579-9. PMID: 37119330Free PMC Article
Clinical features and management of hereditary spastic paraplegia.
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
Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.
Fink JK, Hedera P
Semin Neurol 1999;19(3):301-9. doi: 10.1055/s-2008-1040846. PMID: 12194386

Recent clinical studies

Etiology

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P
J Med Genet 2024 Mar 21;61(4):325-331. doi: 10.1136/jmg-2023-109485. PMID: 37890998
Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A
Cells 2022 Sep 8;11(18) doi: 10.3390/cells11182804. PMID: 36139378Free PMC Article
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL
Brain 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. PMID: 35718349Free PMC Article
Clinical features and management of hereditary spastic paraplegia.
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

Diagnosis

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
Lin X, Jiang JY, Hong DJ, Lin KJ, Li JJ, Chen YJ, Qiu YS, Wang Z, Liao YC, Yang K, Shi Y, Wang MW, Hsu SL, Hong S, Zeng YH, Chen XC, Wang N, Lee YC, Chen WJ
Mov Disord 2024 Jan;39(1):152-163. Epub 2023 Nov 28 doi: 10.1002/mds.29664. PMID: 38014483
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P
J Med Genet 2024 Mar 21;61(4):325-331. doi: 10.1136/jmg-2023-109485. PMID: 37890998
Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A
Cells 2022 Sep 8;11(18) doi: 10.3390/cells11182804. PMID: 36139378Free PMC Article
Clinical features and management of hereditary spastic paraplegia.
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

Therapy

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS
Acta Neuropathol 2023 Aug;146(2):353-368. Epub 2023 Apr 29 doi: 10.1007/s00401-023-02579-9. PMID: 37119330Free PMC Article
A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform.
Deeken JF, Cormier T, Price DK, Sissung TM, Steinberg SM, Tran K, Liewehr DJ, Dahut WL, Miao X, Figg WD
Pharmacogenomics J 2010 Jun;10(3):191-9. Epub 2009 Dec 29 doi: 10.1038/tpj.2009.57. PMID: 20038957Free PMC Article
Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.
Kang SY, Lee MH, Lee SK, Sohn YH
Parkinsonism Relat Disord 2004 Oct;10(7):425-7. doi: 10.1016/j.parkreldis.2004.05.003. PMID: 15465400

Prognosis

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL
Brain 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. PMID: 35718349Free PMC Article
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F, Chen S, Liu P, Chen X, Luo W
J Hum Genet 2022 Mar;67(3):165-168. Epub 2021 Sep 16 doi: 10.1038/s10038-021-00975-1. PMID: 34526651
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV
BMC Neurol 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. PMID: 32746806Free PMC Article
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

Clinical prediction guides

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS
Acta Neuropathol 2023 Aug;146(2):353-368. Epub 2023 Apr 29 doi: 10.1007/s00401-023-02579-9. PMID: 37119330Free PMC Article
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL
Brain 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. PMID: 35718349Free PMC Article
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F, Chen S, Liu P, Chen X, Luo W
J Hum Genet 2022 Mar;67(3):165-168. Epub 2021 Sep 16 doi: 10.1038/s10038-021-00975-1. PMID: 34526651
Hereditary spastic paraplegia: More than an upper motor neuron disease.
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

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