Journal of Neurology

, Volume 255, Issue 6, pp 927–928 | Cite as

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype

  • J. Haberlová
  • K. G. Claeys
  • J. Zámečník
  • P. De Jonghe
  • P. Seeman
LETTER TO THE EDITORS

References

  1. 1.
    Fink JK (2003) The hereditary spastic paraplegias: nine genes and counting. Arch Neurol 60(8):1045–1049PubMedCrossRefGoogle Scholar
  2. 2.
    Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, et al. (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29(3):326–331PubMedCrossRefGoogle Scholar
  3. 3.
    Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, et al. (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112–114PubMedCrossRefGoogle Scholar
  4. 4.
    Rainier S, Sher C, Reish O, Thomas D, Fink JK (2006) De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol 63(3):445–447PubMedCrossRefGoogle Scholar
  5. 5.
    Scarano V, Mancini P, Criscuolo C, De Michele G, Rinaldi C, Tucci T, et al. (2005) The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 252(8):901–903PubMedCrossRefGoogle Scholar
  6. 6.
    Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer- Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámečník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P (2007) Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol Arch Neurol 64:706–713Google Scholar
  7. 7.
    Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A et al. (2003) Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. Neurology 61(4):580–581PubMedGoogle Scholar
  8. 8.
    Marchler-Bauer A, Anderson JB, Cherukuri PF, DeWeese-Scott C, Geer LY, Gwadz M, et al. (2005) CDD: a Conserved Domain Database for protein classification. Nucleic Acids Res 33(Database issue):D192–196PubMedCrossRefGoogle Scholar
  9. 9.
    Zhu PP, Soderblom C, Tao-Cheng JH, Stadler J, Blackstone C (2006) SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum Mol Genet 15(8):1343–1353PubMedCrossRefGoogle Scholar

Copyright information

© Steinkopff-Verlag 2008

Authors and Affiliations

  • J. Haberlová
    • 1
  • K. G. Claeys
    • 2
    • 3
  • J. Zámečník
    • 4
  • P. De Jonghe
    • 2
    • 3
  • P. Seeman
    • 1
  1. 1.DNA laboratory, Dept. of Child NeurologySecond School of Medicine, Charles University Prague and FN MotolPraha 5The Czech Republic
  2. 2.Neurogenetics Group, Dept. of Molecular GeneticsFlanders Interuniversity Institute for Biotechnology, University of AntwerpAntwerpenBelgium
  3. 3.Dept. of NeurologyUniversity Hospital AntwerpAntwerpenBelgium
  4. 4.Dept. of Pathology and Molecular MedicineSecond School of Medicine, Charles University PraguePragueThe Czech Republic

Personalised recommendations