Skip to main content
SpringerLink
Log in

A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome

  • 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

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. Bamonte L (2015 Spring) Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome. Pediatr Phys Ther 27(1):90–99. https://doi.org/10.1097/PEP.0000000000000105

    Article  PubMed  Google Scholar 

  2. Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder LA, D'Angelo D, Chen Q, Chung WK, Sherr EH, on behalf of the Simons VIP Consortium (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170(11):2943–2955. https://doi.org/10.1002/ajmg.a.37820

    Article  CAS  PubMed  Google Scholar 

  3. Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S, on behalf of the Simons VIP Consortium, on behalf of the 16p11.2 European Consortium (2012) A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 49(10):660–668. https://doi.org/10.1136/jmedgenet-2012-101203

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Bürk K (2017) Friedreich ataxia: current status and future prospects. Cerebellum Ataxias 4:4. https://doi.org/10.1186/s40673-017-0062-x

    Article  PubMed  PubMed Central  Google Scholar 

  5. Cook A, Giunti P (2017) Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull 124(1):19–30. https://doi.org/10.1093/bmb/ldx034

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Dipartimento di Medicina Molecolare e dello Sviluppo, Universita’ degli Studi di Siena, viale Bracci, 53100, Siena, Italy

    Valentina Pelliccia, Silvia Ferranti & Salvatore Grosso

  2. U.O.C. Pediatria, Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy

    Rosa Mostardini & Salvatore Grosso

Authors
  1. Valentina Pelliccia
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Silvia Ferranti
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rosa Mostardini
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Salvatore Grosso
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Silvia Ferranti.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest. The authors received no funding for this work. The work described has not been published before and it is not under consideration for publication anywhere else. Its publication has been approved by all coauthors, as well as by the responsible authorities at the institute where the work has been carried out. Informed consent was obtained from the patient’s parents.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Pelliccia, V., Ferranti, S., Mostardini, R. et al. A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome. Neurol Sci 41, 721–722 (2020). https://doi.org/10.1007/s10072-019-04075-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-019-04075-z

Search

Navigation