Skip to main content
Log in

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

  • Letter to the Editor
  • Published:
The Cerebellum 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
Fig. 2

References

  1. Hersheson J, Haworth A, Houlden H. The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat. 2012;33(9):1324–32.

    Article  CAS  PubMed  Google Scholar 

  2. Bettencourt C, Lopez-Sendon J, Garcia-Caldentey J, Rizzu P, Bakker I, Shomroni O, et al. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clinical genetics. 2014;85(2):154–8.

  3. Shi CH. Schisler JC. Tan S, Song B, McDonough H, et al. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Human molecular genetics. 2014;23(4):1013–24.

  4. Shi Y, Wang J, Li JD, Ren H, Guan W, He M, et al. Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One. 2013;8(12):e81884.

    Article  PubMed Central  PubMed  Google Scholar 

  5. Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, et al. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology. 2014;82(19):1749–50.

  6. Cordoba M, Rodriguez-Quiroga S, Gatto EM, Alurralde A, Kauffman MA. Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations. Neurology. 2014;83(3):287–8.

  7. Synofzik M, Schule R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, et al. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet j rare dis. 2014;9(1):57.

    Article  PubMed Central  PubMed  Google Scholar 

  8. Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–2.

    Article  CAS  PubMed  Google Scholar 

  9. Casarejos MJ, Perucho J, Lopez-Sendon JL. Garcia de Yebenes J, Bettencourt C, Gomez A, et al. Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia. PLoS One. 2014;9(9):e106931.

    Article  PubMed Central  PubMed  Google Scholar 

Download references

Acknowledgments

The authors thank all the patients who participate in this study and their families, as well as people involved in the collection of samples; the Netherlands Brain Bank (Amsterdam, the Netherlands) for providing brain tissue of the controls; and A. Ingrassia and Dr W.D. van de Berg for technical support in the immunohistochemistry experiments. This study was supported by the “CIBERNED,” the “Ministerio de Economía y Competitividad—“Gobierno de España” (AIB2010PT-00182) and “Instituto de Salud Carlos III (PI12/00742),” and the “Xunta de Galicia, Dirección Xeral de Investigación, Desenvolvemento e Innovación” (10 PXIB 9101 280 PR). CB was recipient of a postdoctoral fellowship from the “Fundação para a Ciência e a Tecnologia”—FCT [SFRH/BPD/63121/2009] until January 2013, and is presently supported by the Medical Research Council (UK).

Conflict of Interest

The authors declare no conflict of interest.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Conceição Bettencourt.

Electronic supplementary material

Below is the link to the electronic supplementary material.

ESM 1

(PDF 228 kb)

ESM 2

(DOCX 27 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bettencourt, C., de Yébenes, J.G., López-Sendón, J.L. et al. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 . Cerebellum 14, 378–381 (2015). https://doi.org/10.1007/s12311-014-0643-7

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12311-014-0643-7

Keywords

Navigation