Skip to main content

Advertisement

Log in

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

  • Letter to the Editors
  • Published:
Neurogenetics Aims and scope Submit manuscript

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

Access this article

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

Instant access to the full article PDF.

Fig. 1

References

  1. Reid E (1999) The hereditary spastic paraplegias. J Neurol 246:995–1003

    Article  CAS  PubMed  Google Scholar 

  2. Fink JK (2002) Hereditary spastic paraplegia: the pace quickens. Ann Neurol 51:669–672

    Article  PubMed  Google Scholar 

  3. Elliot JL (2004) Beginning to understand hereditary spastic paraplegia atlastin. Arch Neurol 61:1842–1843

    Article  Google Scholar 

  4. Penny EB, McCabe BD (2005) All neuropathies great and small. J Clin Invest 115:2968–2971

    Article  CAS  PubMed  Google Scholar 

  5. Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Burk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schule R, Schols L, Sperfeld AD, Witte OW, Deufel T (2006) High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67:1926–1930

    Article  CAS  PubMed  Google Scholar 

  6. Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Durr A, Brice A (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112–114

    Article  CAS  PubMed  Google Scholar 

  7. 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 15:1343–1353

    Article  CAS  PubMed  Google Scholar 

  8. Meijer IA, Dion P, Laurent S, Dupre N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA (2007) Characterization of a novel SPG3A deletion in a French-Canadian family. Ann Neurol 61:599–603

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank the patients for participating and Kerstin Stein for technical assistance. This study was supported by the European Union (FP6–2002-LIFESCIHEALTH, Spastic Models) and the Tom-Wahlig-Stiftung. E.R. is a Wellcome Trust Advanced Training Fellow in Clinical Science.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Thomas Deufel.

Electronic supplementary material

Below is the link to the electronic supplementary material.

10048_2007_99_MOESM1_ESM.doc

Rights and permissions

Reprints and permissions

About this article

Cite this article

Beetz, C., Nygren, A.O.H., Deufel, T. et al. An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion. Neurogenetics 8, 317–318 (2007). https://doi.org/10.1007/s10048-007-0099-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10048-007-0099-8

Keywords

Navigation