Skip to main content

Advertisement

SpringerLink
Log in

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

  • LETTER TO THE EDITORS
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Fink JK (2006) Hereditary spasticparaplegia. Curr Neurol Neurosci Rep6:65–76

    Article  PubMed  CAS  Google Scholar 

  2. Depienne C, Fedirko E, Forlani S,Cazeneuve C, Ribai P, Feki I, TallaksenC, Nguyen K, Stankoff B, Ruberg M,Stevanin G, Durr A, Brice A (2006)Exon deletions of SPG4 are a frequentcause of hereditary spastic paraplegia.J Med Genet 44:281–284

    Article  PubMed  Google Scholar 

  3. Patrono C, Scarano V, Cricchi F, MeloneMA, Chiriaco M, Napolitano A, MalandriniA, De Michele G, Petrozzi L,Giraldi C, Santoro L, Servidei S, CasaliC, Filla A, Santorelli FM (2005) Autosomaldominant hereditary spasticparaplegia: dHPLC-based mutationanalysis of SPG4 reveals eleven novelmutations. Hum Mutat 25:506

    Article  PubMed  Google Scholar 

  4. Namekawa M, Ribai P, Nelson I, ForlaniS, Fellmann F, Goizet C, Depienne C,Stevanin G, Ruberg M, Durr A, Brice A(2006) SPG3A is the most frequentcause of hereditary spastic paraplegiawith onset before age 10 years. Neurology66:112–114

    Article  PubMed  CAS  Google Scholar 

  5. Klebe S, Lacour A, Durr A, Stojkovic T,Depienne C, Forlani S, Poea-Guyon S,Vuillaume I, Sablonniere B, VermerschP, Brice A, Stevanin G (2007) NIPA1(SPG6) mutations are a rare cause ofautosomal dominant spastic paraplegiain Europe. Neurogenetics 8:155–157

    Article  PubMed  Google Scholar 

  6. Fichera M, Lo Giudice M, Falco M,Sturnio M, Amata S, Calabrese O,Bigoni S, Calzolari E, Neri M (2004)Evidence of kinesin heavy chain(KIF5A) involvement in pure hereditaryspastic paraplegia. Neurology 63:1108–1110

    PubMed  CAS  Google Scholar 

  7. Reid E, Kloos M, Ashley-Koch A, BevanS, Svenson IK, Lennon Graham F, GaskellPC, Dearlove A, Pericak-Vance MA,Rubinsztein DC, Marchuk DA (2002) Akinesin heavy chain (KIF5A) mutationin hereditary spastic paraplegia(SPG10). Am J Hum Genet 71:1189–1194

    Article  PubMed  CAS  Google Scholar 

  8. Blair MA, Ma S, Hedera P (2006) Mutationin KIF5A can also cause adult-onset hereditary spastic paraplegia.Neurogenetics 7:47–50

    Article  PubMed  CAS  Google Scholar 

  9. Lo Giudice M, Neri M, Falco M, SturnioM, Calzolai E, Di Benedetto D, FicheraM (2006) A missense mutation in thecoiled-coil domain of the KIF5A geneand late-onset hereditary spastic paraplegia.Arch Neurol 63:284–287

    Article  PubMed  Google Scholar 

  10. Goldstein LSB (2001) Kinesin molecularmotors: transport pathways, receptors,and human disease. Proc NatlAcad Sci USA 98:6999–7003

    Article  CAS  Google Scholar 

  11. Xia CH, Roberts EA, Her LS, Liu X,Williams DS, Cleveland DW, GoldsteinLSB (2003) Abnormal neurofilamenttransport caused by targeted disruptionof neuronal kinesin heavy chainKIF5A. J Cell Biol 161:55–66

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Molecular Medicine and Neurology, IRCCS Bambino Gesù Children’s Hospital, Piazza S. Onofrio, 4, 00165, Rome, Italy

    A. Tessa, P. S. Denora & F. M. Santorelli MD

  2. Dept. of Neuroscience, Catholic University, Rome, Italy

    G. Silvestri, A. Modoni & M. Masciullo

  3. Dept. of Neurological Sciences, Federico II University, Naples, Italy

    M. F. de Leva & A. Filla

  4. Dept. of Neurosciences, University of Siena, Siena, Italy

    M. T. Dotti & A. Federico

  5. Dept. of Neurology and ORL, University of RomeLa Sapienza – Polo Pontino, Rome, Italy

    C. Casali

  6. Dept. of Neurological Sciences, Second University of Naples, Naples, Italy

    M. A. B. Melone

  7. IRCCS, Don Carlo Gnocchi Foundation, Rome, Italy

    G. Silvestri

Authors
  1. A. Tessa
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. Silvestri
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. F. de Leva
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Modoni
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. P. S. Denora
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. M. Masciullo
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. M. T. Dotti
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. C. Casali
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. M. A. B. Melone
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. A. Federico
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. A. Filla
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. F. M. Santorelli MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to F. M. Santorelli MD.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tessa, A., Silvestri, G., de Leva, M.F. et al. A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. J Neurol 255, 1090–1092 (2008). https://doi.org/10.1007/s00415-008-0840-8

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-008-0840-8

Keywords

Search

Navigation