Skip to main content
Log in

Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis

  • Letter to the Editor
  • Published:
Neurological Sciences 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. Hadano S, Hand CK, Osuga H et al (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166–173. doi:10.1038/ng1001-166

    Article  CAS  PubMed  Google Scholar 

  2. Yang Y, Hentati A, Deng HX et al (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160–165. doi:10.1038/ng1001-160

    Article  CAS  PubMed  Google Scholar 

  3. Eymard-Pierre E, Lesca G, Dollet S et al (2002) Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 71:518–527. doi:10.1086/342359

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Eker HK, Unlu SE, Al-Salmi F, Crosby AH (2014) A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. Eur J Med Genet 57:275–278. doi:10.1016/j.ejmg.2014.03.006

    Article  PubMed  Google Scholar 

  5. Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leao M (2014) Alsin related disorders: literature review and case study with novel mutations. Case Rep Genet 2014:691515. doi:10.1155/2014/691515

    PubMed Central  PubMed  Google Scholar 

Download references

Acknowledgments

This work was supported by the National Natural Science Foundation of China (Proj. No. 30973221 and 81371266) and the Program for Zhejiang Leading Team of Science and Technology Innovation (Proj. No. 2010R50049-04).

Conflict of interest

The authors declare no financial or other conflict of interests.

Ethical standard

This study was approved by the Research Ethics at Board Second Affiliated Hospital of Zhejiang University School of Medicine and the parents of the patients gave their consent for publishing the data of the patients, including the video.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Wei Luo.

Additional information

F. Xie and Z. Cen contributed equally to this work and should be considered co-first authors.

Electronic supplementary material

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Xie, F., Cen, Zd., Xiao, Jf. et al. Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis. Neurol Sci 36, 1279–1280 (2015). https://doi.org/10.1007/s10072-014-2018-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-014-2018-8

Keywords

Navigation