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Spastic Paraplegia 76

MedGen UID:
1678550
•Concept ID:
C4763439
•
Disease or Syndrome

Definition

An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CAPN1 gene, encoding calpain-1 catalytic subunit. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic Paraplegia 76

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
Systematic review and meta-analysis of current evidence in endograft therapy vs medical treatment for uncomplicated type B aortic dissection.
Wang J, Jin T, Chen B, Pan Y, Shao C
J Vasc Surg 2022 Oct;76(4):1099-1108.e3. Epub 2022 Apr 4 doi: 10.1016/j.jvs.2022.03.876. PMID: 35390485
Contemporary endovascular treatment of type B aortic dissection in China.
Li H, Chan YC, Cheng SW
Asian Cardiovasc Thorac Ann 2016 Sep;24(7):739-49. Epub 2016 Jun 28 doi: 10.1177/0218492316657464. PMID: 27357117

Recent clinical studies

Etiology

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Lai LL, Chen YJ, Li YL, Lin XH, Wang MW, Dong EL, Wang N, Chen WJ, Lin X
Ann Clin Transl Neurol 2020 Oct;7(10):1862-1869. Epub 2020 Aug 29 doi: 10.1002/acn3.51169. PMID: 32860341Free PMC Article
Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
Xia ZC, Liu ZH, Zhou XX, Liu Z, Wang JL, Hu ZM, Tan JQ, Shen L, Jiang H, Tang BS, Lei LF
J Neurol Sci 2020 Apr 15;411:116691. Epub 2020 Jan 18 doi: 10.1016/j.jns.2020.116691. PMID: 31982778
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.
Peng F, Sun YM, Quan C, Wang J, Wu JJ
Orphanet J Rare Dis 2019 Apr 25;14(1):83. doi: 10.1186/s13023-019-1053-1. PMID: 31023339Free PMC Article

Prognosis

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
Xia ZC, Liu ZH, Zhou XX, Liu Z, Wang JL, Hu ZM, Tan JQ, Shen L, Jiang H, Tang BS, Lei LF
J Neurol Sci 2020 Apr 15;411:116691. Epub 2020 Jan 18 doi: 10.1016/j.jns.2020.116691. PMID: 31982778

Clinical prediction guides

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
Xia ZC, Liu ZH, Zhou XX, Liu Z, Wang JL, Hu ZM, Tan JQ, Shen L, Jiang H, Tang BS, Lei LF
J Neurol Sci 2020 Apr 15;411:116691. Epub 2020 Jan 18 doi: 10.1016/j.jns.2020.116691. PMID: 31982778

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