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Autosomal recessive complex spastic paraplegia

MedGen UID:
833408
•Concept ID:
CN228909
•
Disease or Syndrome
Synonyms: autosomal recessive complex hereditary spastic paraplegia; Autosomal recessive complex HSP; autosomal recessive complex HSP; autosomal recessive complex spastic paraplegia; Autosomal recessive complex SPG; autosomal recessive complex SPG; autosomal recessive complicated HSP; Autosomal recessive complicated HSP; autosomal recessive complicated spastic paraplegia; Autosomal recessive complicated spastic paraplegia; Autosomal recessive complicated SPG; autosomal recessive complicated SPG; complex hereditary spastic paraplegia, autosomal recessive
 
Monarch Initiative: MONDO:0015089
Orphanet: ORPHA100981

Definition

Autosomal recessive form of complex hereditary spastic paraplegia. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autosomal recessive complex spastic paraplegia
Follow this link to review classifications for Autosomal recessive complex spastic paraplegia in Orphanet.

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
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP
Brain 2012 Oct;135(Pt 10):2994-3004. Epub 2012 Sep 10 doi: 10.1093/brain/aws224. PMID: 22964162
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H
Eur J Neurol 2008 Oct;15(10):1065-70. Epub 2008 Aug 20 doi: 10.1111/j.1468-1331.2008.02247.x. PMID: 18717728Free PMC Article

Recent clinical studies

Etiology

Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.
Pozner T, Regensburger M, Engelhorn T, Winkler J, Winner B
Brain 2020 Aug 1;143(8):2369-2379. doi: 10.1093/brain/awaa099. PMID: 32355960Free PMC Article
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
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
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
Hereditary spastic paraplegias: an update.
Depienne C, Stevanin G, Brice A, Durr A
Curr Opin Neurol 2007 Dec;20(6):674-80. doi: 10.1097/WCO.0b013e3282f190ba. PMID: 17992088

Diagnosis

Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP
J Neurol Sci 2020 Feb 15;409:116620. Epub 2019 Dec 6 doi: 10.1016/j.jns.2019.116620. PMID: 31865189
Spastic ataxias.
Bereznyakova O, Dupré N
Handb Clin Neurol 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. PMID: 29891058
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
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
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

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
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.
Guidubaldi A, Piano C, Santorelli FM, Silvestri G, Petracca M, Tessa A, Bentivoglio AR
Mov Disord 2011 Feb 15;26(3):553-6. Epub 2011 Mar 4 doi: 10.1002/mds.23552. PMID: 21381113

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
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
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
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
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast.
Pearce DA
Hum Genet 1999 Jun;104(6):443-8. doi: 10.1007/s004390050985. PMID: 10453730

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
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.
Utz KS, Kohl Z, Marterstock DC, Doerfler A, Winkler J, Schmidt M, Regensburger M
Orphanet J Rare Dis 2022 Jul 29;17(1):301. doi: 10.1186/s13023-022-02451-1. PMID: 35906604Free PMC Article
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP
J Neurol Sci 2020 Feb 15;409:116620. Epub 2019 Dec 6 doi: 10.1016/j.jns.2019.116620. PMID: 31865189
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
Disc degeneration-related clinical phenotypes.
Battié MC, Lazáry A, Fairbank J, Eisenstein S, Heywood C, Brayda-Bruno M, Varga PP, McCall I
Eur Spine J 2014 Jun;23 Suppl 3:S305-14. Epub 2013 Jul 25 doi: 10.1007/s00586-013-2903-5. PMID: 23884550

Recent systematic reviews

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793

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