SPAST

Summary

Gene Symbol: SPAST
Description: spastin
Alias: ADPSP, FSP2, SPG4, spastin, spastic paraplegia 4 (autosomal dominant; spastin), spastic paraplegia 4 protein
Species: human
Products:     SPAST

Top Publications

  1. Erichsen A, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen C. Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. Eur J Neurol. 2007;14:809-14 pubmed
    To establish the phenotypic variation and frequency of SPAST mutations or deletions in Norwegian patients with hereditary spastic paraplegia (HSP), we examined 59 unrelated patients with HSP and screened for DNA point mutations and ..
  2. Park S, Zhu P, Parker R, Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest. 2010;120:1097-110 pubmed publisher
    ..mutations in atlastin-1 (also known as SPG3A), receptor expression enhancing protein 1 (REEP1; SPG31), or spastin (SPG4)...
  3. Santorelli F, Patrono C, Fortini D, Tessa A, Comanducci G, Bertini E, et al. Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. Neurology. 2000;55:702-5 pubmed
    ..They found a novel mutation in the SPG4 gene, which segregates with the disease in six patients...
  4. Sanderson C, Connell J, Edwards T, Bright N, Duley S, Thompson A, et al. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet. 2006;15:307-18 pubmed
    ..inherited in an autosomal-dominant pattern and are commonly caused by mutations either in the SPG4 gene spastin or in the SPG3A gene atlastin...
  5. Proukakis C, Auer Grumbach M, Wagner K, Wilkinson P, Reid E, Patton M, et al. Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat. 2003;21:170 pubmed
    ..Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases...
  6. Mitne Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, et al. A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. Eur J Hum Genet. 2007;15:1276-9 pubmed
    b>SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized by large inter- and intrafamilial variability in age at onset (AAO) and disease severity...
  7. Yang D, Rismanchi N, Renvoisé B, Lippincott Schwartz J, Blackstone C, Hurley J. Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. Nat Struct Mol Biol. 2008;15:1278-86 pubmed publisher
    ..charged multivesicular body protein 1B (CHMP1B) is required for recruitment of the MIT domain-containing protein spastin, a microtubule-severing enzyme, to the midbody. The 2...
  8. Salinas S, Carazo Salas R, Proukakis C, Cooper J, Weston A, Schiavo G, et al. Human spastin has multiple microtubule-related functions. J Neurochem. 2005;95:1411-20 pubmed
    ..The most frequently mutated gene causing autosomal dominant HSP is SPG4, which encodes spastin, a protein that belongs to the family of ATPases associated with various cellular activities (AAAs)...
  9. Depienne C, Tallaksen C, Lephay J, Bricka B, Poea Guyon S, Fontaine B, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet. 2006;43:259-65 pubmed
    SPG4 encodes spastin, a member of the AAA protein family, and is the major gene responsible for autosomal dominant spastic paraplegia...

More Information

Publications62

  1. Montenegro G, Rebelo A, Connell J, Allison R, Babalini C, D Aloia M, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest. 2012;122:538-44 pubmed publisher
    ..together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and North America...
  2. Charvin D, Cifuentes Diaz C, Fonknechten N, Joshi V, Hazan J, Melki J, et al. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet. 2003;12:71-8 pubmed
    Mutations of spastin are responsible for the most common autosomal dominant form of hereditary spastic paraplegia (AD-HSP), a disease characterized by axonal degeneration of corticospinal tracts and posterior columns...
  3. Errico A, Claudiani P, D Addio M, Rugarli E. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. Hum Mol Genet. 2004;13:2121-32 pubmed
    ..The gene most frequently involved in autosomal dominant cases of this disease, SPG4, encodes spastin, an ATPase belonging to the AAA family...
  4. Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribai P, Feki I, et al. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet. 2007;44:281-4 pubmed
    Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions.
  5. Tsang H, Edwards T, Wang X, Connell J, Davies R, Durrington H, et al. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum Mol Genet. 2009;18:3805-21 pubmed publisher
    ..In addition, we demonstrate that two other members of the endosomal group of HSP proteins, spastin and spartin, are inhibitors of BMP signalling...
  6. Alvarez V, Sánchez Ferrero E, Beetz C, Diaz M, Alonso B, Corao A, et al. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurol. 2010;10:89 pubmed publisher
    ..Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases...
  7. Molon A, Montagna P, Angelini C, Pegoraro E. Novel spastin mutations and their expression analysis in two Italian families. Eur J Hum Genet. 2003;11:710-3 pubmed
    Mutations in spastin cause the most common form of pure autosomal dominant hereditary spastic paraparesis (SPG4). Here, we report two Italian families affected with SPG4-linked HSP harboring two novel spastin mutations...
  8. Starling A, Rocco P, Passos Bueno M, Hazan J, Marie S, Zatz M. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree. J Med Genet. 2002;39:e77 pubmed
  9. Fonknechten N, Mavel D, Byrne P, Davoine C, Cruaud C, Bonsch D, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet. 2000;9:637-44 pubmed
    ..The SPG4 locus at 2p21-p22 has been shown to account for approximately 40% of all AD-HSP families. SPG4 encoding spastin, a putative nuclear AAA protein, has recently been identified...
  10. Ciccarelli F, Proukakis C, Patel H, Cross H, Azam S, Patton M, et al. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics. 2003;81:437-41 pubmed
    ..has revealed the presence of a sequence domain of approximately 80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia...
  11. Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, et al. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Arch Neurol. 2004;61:49-55 pubmed
    ..The most common form of hereditary spastic paraplegia is caused by mutations in the spastin gene (SPG4), which encodes spastin, an adenosine triphosphatase associated with various cellular activities ..
  12. Guizetti J, Schermelleh L, Mäntler J, Maar S, Poser I, Leonhardt H, et al. Cortical constriction during abscission involves helices of ESCRT-III-dependent filaments. Science. 2011;331:1616-20 pubmed publisher
    ..Simultaneous spastin-mediated removal of underlying microtubules enabled full constriction at the abscission site...
  13. Roll Mecak A, Vale R. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008;451:363-7 pubmed publisher
    b>Spastin, the most common locus for mutations in hereditary spastic paraplegias, and katanin are related microtubule-severing AAA ATPases involved in constructing neuronal and non-centrosomal microtubule arrays and in segregating ..
  14. White S, Evans K, Lary J, Cole J, Lauring B. Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing. J Cell Biol. 2007;176:995-1005 pubmed
    b>Spastin, an AAA ATPase mutated in the neurodegenerative disease hereditary spastic paraplegia, severs microtubules...
  15. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999;23:296-303 pubmed
    ..SPG4 interval, we identified a candidate gene encoding a new member of the AAA protein family, which we named spastin. Sequence analysis of this gene in seven SPG4-linked pedigrees revealed several DNA modifications, including ..
  16. Sauter S, Miterski B, Klimpe S, Bonsch D, Schols L, Visbeck A, et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat. 2002;20:127-32 pubmed
    ..It is caused by mutations in the SPG4 gene encoding spastin, a member of the AAA protein family of ATPases...
  17. Mannan A, Boehm J, Sauter S, Rauber A, Byrne P, Neesen J, et al. Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. Neurogenetics. 2006;7:93-103 pubmed
    b>Spastin, an ATPase belonging to the AAA family of proteins is most commonly mutated in autosomal dominant hereditary spastic paraplegias (HSP)...
  18. Abrahamsen G, Fan Y, Matigian N, Wali G, Bellette B, Sutharsan R, et al. A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations. Dis Model Mech. 2013;6:489-502 pubmed publisher
    ..Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is a microtubule-severing protein that is enriched in the distal axon of ..
  19. Lindsey J, Lusher M, McDermott C, White K, Reid E, Rubinsztein D, et al. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet. 2000;37:759-65 pubmed
    Hereditary spastic paraparesis is a genetically heterogeneous condition. Recently, mutations in the spastin gene were reported in families linked to the common SPG4 locus on chromosome 2p21-22.
  20. Connell J, Lindon C, Luzio J, Reid E. Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. Traffic. 2009;10:42-56 pubmed publisher
    Mutations in the gene encoding the microtubule (MT)-severing protein spastin are the most common cause of hereditary spastic paraplegia, a genetic condition in which axons of the corticospinal tracts degenerate...
  21. Denton K, Lei L, Grenier J, Rodionov V, Blackstone C, Li X. Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia. Stem Cells. 2014;32:414-23 pubmed publisher
    ..HSP, is caused by autosomal dominant mutations in the SPAST gene, which encodes the microtubule-severing ATPase spastin. Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) ..
  22. Meijer I, Hand C, Cossette P, Figlewicz D, Rouleau G. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol. 2002;59:281-6 pubmed
    ..The most common form of HSP is caused by mutations in the SPG4 gene, which codes for spastin, an adenosine triphosphatase with various cellular activities (AAA) protein family member...
  23. Errico A, Ballabio A, Rugarli E. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet. 2002;11:153-63 pubmed
    ..Most cases of the autosomal dominant form of the disease are due to mutations in the SPG4 gene, which encodes spastin, an ATPase belonging to the AAA family...
  24. Braschinsky M, Tamm R, Beetz C, Sachez Ferrero E, Raukas E, Lüüs S, et al. Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. BMC Neurol. 2010;10:17 pubmed publisher
    ..The most common autosomal-dominant form of the disease derives from mutations in the SPAST gene...
  25. McCorquodale D, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, et al. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clin Genet. 2011;79:523-30 pubmed publisher
    ..Mutations in the genes atlastin, spastin and REEP1 are estimated to account for up to 50% of autosomal-dominant HSP and currently guide the molecular ..
  26. Evans K, Gomes E, Reisenweber S, Gundersen G, Lauring B. Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. J Cell Biol. 2005;168:599-606 pubmed
    Mutations in the AAA adenosine triphosphatase (ATPase) Spastin (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia, which is a retrograde axonopathy primarily characterized pathologically by the degeneration of long ..
  27. Patrono C, Casali C, Tessa A, Cricchi F, Fortini D, Carrozzo R, et al. Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. J Neurol. 2002;249:200-5 pubmed
    ..three new SPG4 mutations, all predicting a loss-of-func-tion with apparently important consequences for spastin function. RT-PCR studies predict loss-of-function as a possible mechanism leading to spastin-related HSP...
  28. McDermott C, Grierson A, Wood J, Bingley M, Wharton S, Bushby K, et al. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol. 2003;54:748-59 pubmed
    The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the spastin gene...
  29. Shoukier M, Neesen J, Sauter S, Argyriou L, Doerwald N, Pantakani D, et al. Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. Eur J Hum Genet. 2009;17:187-94 pubmed publisher
    The SPAST gene encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP)...
  30. Renvoisé B, Parker R, Yang D, Bakowska J, Hurley J, Blackstone C. SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. Mol Biol Cell. 2010;21:3293-303 pubmed publisher
    ..These data suggest that Ist1 interaction is important for spartin recruitment to the midbody and that spartin participates in cytokinesis. ..
  31. Havlicek S, Kohl Z, Mishra H, Prots I, Eberhardt E, Denguir N, et al. Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. Hum Mol Genet. 2014;23:2527-41 pubmed publisher
    ..Mutations in Spastic Gait 4 (SPG4), encoding spastin, are the most frequent cause of HSP...
  32. Beetz C, Nygren A, Schickel J, Auer Grumbach M, Burk K, Heide G, et al. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology. 2006;67:1926-30 pubmed
    ..The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4...
  33. Ma D, Chia S, Tang Y, Chang M, Probst A, Burgunder J, et al. Spastin in the human and mouse central nervous system with special reference to its expression in the hippocampus of mouse pilocarpine model of status epilepticus and temporal lobe epilepsy. Neurochem Int. 2006;49:651-64 pubmed
    ..hybridization and immunocytochemical studies in the mouse central nervous system (CNS), a strong expression of spastin mRNA and protein was found in Purkinje cells and dentate nucleus in the cerebellum, in hippocampal principal ..
  34. Wharton S, McDermott C, Grierson A, Wood J, Gelsthorpe C, Ince P, et al. The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol. 2003;62:1166-77 pubmed
    ..paraparesis (HSP) is a genetically heterogeneous disorder, the most common cause of which is mutation of the spastin gene...
  35. Patrono C, Scarano V, Cricchi F, Melone M, Chiriaco M, Napolitano A, et al. Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat. 2005;25:506 pubmed
    ..protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype...
  36. Claudiani P, Riano E, Errico A, Andolfi G, Rugarli E. Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. Exp Cell Res. 2005;309:358-69 pubmed
    Most cases of autosomal-dominant hereditary spastic paraplegia are linked to mutations in SPG4 encoding spastin, a protein involved in microtubule dynamics and membrane trafficking...
  37. Mancuso G, Rugarli E. A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. BMC Biol. 2008;6:31 pubmed publisher
    ..SPG4 encodes spastin, a microtubule-severing ATPase belonging to the AAA family...
  38. Burger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, et al. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet. 2000;8:771-6 pubmed
    ..The SPG4 gene was recently identified. It is ubiquitously expressed in adult and foetal tissues and encodes spastin, an ATPase of the AAA family...
  39. Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele A, et al. Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia. J Neurol Sci. 2010;288:96-100 pubmed publisher
    Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases...
  40. Evans K, Keller C, Pavur K, Glasgow K, Conn B, Lauring B. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc Natl Acad Sci U S A. 2006;103:10666-71 pubmed
    ..Here, we show a physical interaction between spastin and atlastin, two autosomal dominant HSP gene products...
  41. Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, et al. Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. J Neurol Neurosurg Psychiatry. 2009;80:440-3 pubmed publisher
    Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis...
  42. Riano E, Martignoni M, Mancuso G, Cartelli D, Crippa F, Toldo I, et al. Pleiotropic effects of spastin on neurite growth depending on expression levels. J Neurochem. 2009;108:1277-88 pubmed publisher
    ..The most common form is due to heterozygous mutations in the SPG4 gene, encoding spastin, a microtubule (MT)-severing protein...
  43. Braschinsky M, Lüüs S, Gross Paju K, Haldre S. The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia. Neuroepidemiology. 2009;32:89-93 pubmed publisher
    ..Eleven persons (21.6% of all studied Estonian HSP patients) with HSP were found to have mutations in the spastin gene (SPG4)...
  44. Loureiro J, Miller Fleming L, Thieleke Matos C, Magalhaes P, Cruz V, Coutinho P, et al. Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurol Scand. 2009;119:113-8 pubmed publisher
    ..Mutations in the SPG4 and SPG3A genes are responsible for approximately 50% of autosomal dominant HSP...
  45. Svenstrup K, Bross P, Koefoed P, Hjermind L, Eiberg H, Born A, et al. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. J Neurol Sci. 2009;284:90-5 pubmed publisher
    ..The most common forms of autosomal dominant HSP, SPG4 and SPG3, are caused by sequence variants in the SPAST and SPG3A genes, respectively...
  46. Svenson I, Kloos M, Jacon A, Gallione C, Horton A, Pericak Vance M, et al. Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. Neurogenetics. 2005;6:135-41 pubmed
    ..The most common cause of autosomal dominant HSP is mutation of a novel gene encoding spastin, a protein whose function is still being elucidated...
  47. Solowska J, Garbern J, Baas P. Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia. Hum Mol Genet. 2010;19:2767-79 pubmed publisher
    ..Because the protein encoded by SPG4, termed spastin, is a microtubule-severing enzyme, a loss-of-function scenario for the disease suggests that corticospinal axons ..
  48. de Bot S, van den Elzen R, Mensenkamp A, Schelhaas H, Willemsen M, Knoers N, et al. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. J Neurol Neurosurg Psychiatry. 2010;81:1073-8 pubmed publisher
    In the clinically and genetically heterogeneous group of the hereditary spastic paraplegias (HSPs), mutations in the SPAST gene are most frequently found and cause a pure autosomal dominant form.
  49. Reid E, Connell J, Edwards T, Duley S, Brown S, Sanderson C. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum Mol Genet. 2005;14:19-38 pubmed
    ..Mutations in spastin are the most common cause of the condition...
  50. Svenson I, Kloos M, Gaskell P, Nance M, Garbern J, Hisanaga S, et al. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics. 2004;5:157-64 pubmed
    ..The most-common cause of autosomal dominant HSP is mutation of the gene encoding spastin, a protein of uncertain function...
  51. Mannan A, Krawen P, Sauter S, Boehm J, Chronowska A, Paulus W, et al. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet. 2006;79:351-7 pubmed
    b>Spastin, the most commonly mutated protein in the autosomal dominant form of hereditary spastic paraplegia (AD-HSP) has been suggested to be involved in vesicular cargo trafficking; however, a comprehensive function of spastin has not ..
  52. Svenson I, Ashley Koch A, Gaskell P, Riney T, Cumming W, Kingston H, et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet. 2001;68:1077-85 pubmed
    ..It is caused by mutations in the gene encoding spastin, a member of the AAA family of ATPases...
  53. Chinnery P, Keers S, Holden M, Ramesh V, Dalton A. Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. Neurology. 2004;63:710-2 pubmed
    The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene...