Skip to main content

Advertisement

SpringerLink
Log in

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling

  • 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.

References

  1. Novarino G, Fenstermarker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD et al (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343:506–511

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Namekawa M, Ribai P, Nelson I et al (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66(1):112–114

    Article  CAS  PubMed  Google Scholar 

  3. Durr A, Camuzat A, Colin E, Tallaksen C et al (2004) Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 61:1867–1872

    Article  PubMed  Google Scholar 

  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):445–447

    Article  PubMed  Google Scholar 

  5. Fusco C, Frattini D, Farnetti E et al (2010) Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. Brain Dev 32(7):592–594

    Article  PubMed  Google Scholar 

Download references

Conflict of interest

All authors of the paper De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling declare no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Medical-Surgical Sciences and Biotechnologies, Polo Pontino-Sapienza University of Rome, Latina, Italy

    Luca Leonardi, Christian Marcotulli & Carlo Casali

  2. Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy

    Filippo M. Santorelli & Alessandra Tessa

Authors
  1. Luca Leonardi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christian Marcotulli
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Filippo M. Santorelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Alessandra Tessa
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Carlo Casali
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Carlo Casali.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Leonardi, L., Marcotulli, C., Santorelli, F.M. et al. De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling. Neurol Sci 36, 1063–1064 (2015). https://doi.org/10.1007/s10072-015-2097-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-015-2097-1

Keywords

Search

Navigation