Skip to main content
Log in

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later

  • 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

(modified from Testut and Latarjet [15])

Fig. 2

References

  1. Koeppen AH, Becker AB, Qian J, Feustel PJ (2017) Friedreich ataxia: hypoplasia of spinal cord and dorsal root ganglia. J Neuropathol Exp Neurol 76:101–108

    PubMed  Google Scholar 

  2. Friedreich N (1877) Ueber Ataxie mit besonderer Berucksichtigung der hereditaren Formen. Nachtrag. Virchows Arch Pathol Anat Physiol Klin Med 70:140–152

    Article  Google Scholar 

  3. Mascalchi M, Toschi N, Giannelli M et al (2016) Regional cerebral disease progression in Friedreich’s ataxia: a longitudinal diffusion tensor imaging study. J Neuroimaging 26:197–200

    Article  PubMed  Google Scholar 

  4. Trouillas P, Takayanagi T, Hallet M et al (1997) International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 145:205–211

    Article  CAS  PubMed  Google Scholar 

  5. Filla A, De Michele G, Caruso G et al (1990) Genetic data and natural history of Friedreich’s disease: a study of 80 Italian patients. J Neurol 237:345–351

    Article  CAS  PubMed  Google Scholar 

  6. Quercia N, Somers GR, Halliday W et al (2010) Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. Neuromuscul Disord 20:340–342

    Article  PubMed  Google Scholar 

  7. Koeppen AH, Morral JA, McComb RD et al (2011) The neuropathology of late-onset Friedreich’s ataxia. Cerebellum 10:96–103

    Article  PubMed  PubMed Central  Google Scholar 

  8. Ormerod IE, Harding AE, Miller DH et al (1994) Magnetic resonance imaging in degenerative ataxic disorders. J Neurol Neurosurg Psychiatry 57:51–57

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Della Nave R, Ginestroni A, Giannelli M et al (2008) Brain structural damage in Friedreich’s ataxia. J Neurol Neurosurg Psychiatry 79:82–85

    Article  CAS  PubMed  Google Scholar 

  10. Koeppen AH, Ramirez RL, Becker AB et al (2015) Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus. J Neuropathol Exp Neurol 74:166–176

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Waldvogel D, van Gelderen P, Hallet M (1999) Increased iron in the dentate nucleus of patients with Friedreich’s ataxia. Ann Neurol 46:123–125

    Article  CAS  PubMed  Google Scholar 

  12. Pagani E, Ginestroni A, Della Nave R et al (2010) Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia. Radiology 255:882–889

    Article  PubMed  Google Scholar 

  13. Bonilha da Silva C, Bergo FPG, D’Abreu A et al (2014) Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich’s ataxia. Eur J Neurol 21:1131–1136

    Article  CAS  PubMed  Google Scholar 

  14. Rezende TJR, Silva CB, Yassuda CL et al (2016) Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich’s ataxia. Mov Disord 31:70–78

    Article  PubMed  Google Scholar 

  15. Testut L, Latarjet A (1971) Traité d’Anatomie Humaine, 9me édition. G. Dion & C.ie, Paris

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Mario Mascalchi.

Ethics declarations

Funding

The study did not receive any fund.

Conflicts of interest

All Authors declare not to have any conflict of interest with the study and manuscript.

Ethical standard

The study was conducted according to the Ethical standards stated in the declaration of Helsinki.

Informed consent

Patients and controls were informed about the intention to publish the study and provided a written informed consent.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Mascalchi, M., Bianchi, A., Ciulli, S. et al. Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later. J Neurol 264, 1526–1528 (2017). https://doi.org/10.1007/s00415-017-8542-8

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-017-8542-8

Navigation