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Spastic Paraplegia 4

MedGen UID:
777979
•Concept ID:
C3711371
•
Disease or Syndrome
Synonym: Spastic Paraplegia Type 4
 
OMIM®: 604277

Definition

An autosomal dominant condition caused by mutation(s) in the SPAST gene, encoding spastin. It is characterized by progressive lower extremity spasticity and weakness. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic Paraplegia 4

Recent clinical studies

Etiology

Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z
Parkinsonism Relat Disord 2022 May;98:62-69. Epub 2022 Apr 16 doi: 10.1016/j.parkreldis.2022.03.019. PMID: 35487127
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.
Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr
Eur J Neurol 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. PMID: 26806216
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H, Kang SH, Park S, Kim SY, Seo SH, Lee SJ, Lee JA, Cho SI, Sung JJ, Lee KW, Kim JY, Park SS, Seong MW
J Neurol Sci 2015 Oct 15;357(1-2):167-72. Epub 2015 Jul 17 doi: 10.1016/j.jns.2015.07.024. PMID: 26208798
Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.
Lindig T, Bender B, Hauser TK, Mang S, Schweikardt D, Klose U, Karle KN, Schüle R, Schöls L, Rattay TW
J Neurol 2015 Aug;262(8):1961-71. Epub 2015 Jun 9 doi: 10.1007/s00415-015-7791-7. PMID: 26050637
Recent advances in hereditary spastic paraplegia.
Tallaksen CM, Dürr A, Brice A
Curr Opin Neurol 2001 Aug;14(4):457-63. doi: 10.1097/00019052-200108000-00005. PMID: 11470961

Diagnosis

Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z
Parkinsonism Relat Disord 2022 May;98:62-69. Epub 2022 Apr 16 doi: 10.1016/j.parkreldis.2022.03.019. PMID: 35487127
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Gillespie MK, Humphreys P, McMillan HJ, Boycott KM
J Child Neurol 2018 Apr;33(5):329-332. Epub 2018 Feb 8 doi: 10.1177/0883073818756680. PMID: 29421991
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H, Kang SH, Park S, Kim SY, Seo SH, Lee SJ, Lee JA, Cho SI, Sung JJ, Lee KW, Kim JY, Park SS, Seong MW
J Neurol Sci 2015 Oct 15;357(1-2):167-72. Epub 2015 Jul 17 doi: 10.1016/j.jns.2015.07.024. PMID: 26208798
Recent advances in hereditary spastic paraplegia.
Tallaksen CM, Dürr A, Brice A
Curr Opin Neurol 2001 Aug;14(4):457-63. doi: 10.1097/00019052-200108000-00005. PMID: 11470961
Clinical mitochondrial genetics.
Chinnery PF, Howell N, Andrews RM, Turnbull DM
J Med Genet 1999 Jun;36(6):425-36. PMID: 10874629Free PMC Article

Prognosis

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
Zhu Z, Zhang C, Zhao G, Liu Q, Zhong P, Zhang M, Tang W, Zhan F, Tian W, Wang Y, Yin K, Huang X, Jiang J, Liu X, Liu S, Zhou H, Luan X, Tang H, Wang Y, Chen S, Cao L
Parkinsonism Relat Disord 2019 Dec;69:125-133. Epub 2019 Nov 6 doi: 10.1016/j.parkreldis.2019.11.007. PMID: 31751864
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Gillespie MK, Humphreys P, McMillan HJ, Boycott KM
J Child Neurol 2018 Apr;33(5):329-332. Epub 2018 Feb 8 doi: 10.1177/0883073818756680. PMID: 29421991
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD
Eur J Med Genet 2017 Oct;60(10):548-552. Epub 2017 Aug 1 doi: 10.1016/j.ejmg.2017.07.015. PMID: 28778789
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR
Am J Hum Genet 2014 Aug 7;95(2):143-61. Epub 2014 Jul 24 doi: 10.1016/j.ajhg.2014.06.014. PMID: 25065914Free PMC Article

Clinical prediction guides

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
Baalmann N, Spielmann M, Gillessen-Kaesbach G, Hanker B, Schmidt J, Lill CM, Hellenbroich Y, Greiten B, Lohmann K, Trinh J, Hüning I
Eur J Med Genet 2023 Jul;66(7):104774. Epub 2023 Apr 28 doi: 10.1016/j.ejmg.2023.104774. PMID: 37120078
Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
Zhu Z, Zhang C, Zhao G, Liu Q, Zhong P, Zhang M, Tang W, Zhan F, Tian W, Wang Y, Yin K, Huang X, Jiang J, Liu X, Liu S, Zhou H, Luan X, Tang H, Wang Y, Chen S, Cao L
Parkinsonism Relat Disord 2019 Dec;69:125-133. Epub 2019 Nov 6 doi: 10.1016/j.parkreldis.2019.11.007. PMID: 31751864
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD
Eur J Med Genet 2017 Oct;60(10):548-552. Epub 2017 Aug 1 doi: 10.1016/j.ejmg.2017.07.015. PMID: 28778789
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.
Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr
Eur J Neurol 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. PMID: 26806216
Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.
Miura S, Shibata H, Kida H, Noda K, Toyama T, Iwasaki N, Iwaki A, Ayabe M, Aizawa H, Taniwaki T, Fukumaki Y
Neurogenetics 2011 Feb;12(1):25-31. Epub 2010 Sep 22 doi: 10.1007/s10048-010-0260-7. PMID: 20857310

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