Skip to main content
Log in

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings

  • Letter to the Editors
  • Published:
Journal of Neurology 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. van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K et al (2007) Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. Neurology 69:166–171

    Article  PubMed  Google Scholar 

  2. Aquino D, Bizzi A, Grisoli M, Garavaglia B, Bruzzone MG, Nardocci N et al (2009) Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects. Radiology 252:165–172

    Article  PubMed  Google Scholar 

  3. Carrera E, Tononi G (2014) Diaschisis: past, present, future. Brain 137:2408–2422

    Article  PubMed  Google Scholar 

  4. Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M et al (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 73:546–553

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K et al (2014) Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation. Brain 137:1921–1930

    Article  PubMed  PubMed Central  Google Scholar 

  6. Kancheva D, Chamova T, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L et al (2015) Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord 30:854–858

    Article  CAS  PubMed  Google Scholar 

  7. Carvalho D, Santos S, Martins B, Marques FP (2015) TUBB4A novel mutation reinforces the genotype–phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. Brain 138:e327

    Article  PubMed  Google Scholar 

  8. Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K et al (2014) Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. Neurology 82:2230–2237

    Article  CAS  PubMed  Google Scholar 

  9. Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K et al (2014) TUBB4A de novo mutations cause isolated hypomyelination. Neurology 83:898–902

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Arber C, Li A, Houlden H, Wray S (2015) Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol. doi:10.1111/nan.12242

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Ettore Salsano.

Ethics declarations

Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standard

The authors declare that all the required ethical standards have been met.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material (DOCX 75 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Sagnelli, A., Magri, S., Farina, L. et al. Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings. J Neurol 263, 591–593 (2016). https://doi.org/10.1007/s00415-016-8020-8

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-016-8020-8

Keywords

Navigation