The Cerebellum

, Volume 12, Issue 4, pp 437–440

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients

Original Paper

DOI: 10.1007/s12311-012-0434-y

Cite this article as:
Sierra, M., Infante, J. & Berciano, J. Cerebellum (2013) 12: 437. doi:10.1007/s12311-012-0434-y


The aim of this study is to assess the presence of substantia nigra (SN) hypoechogenicity in a cohort of Friedreich’s ataxia (FRDA) patients and its possible association with restless syndrome (RLS). Fourteen genetically confirmed FRDA patients and 14 sex- and age-matched healthy controls underwent transcranial sonography examination to evaluate the area of echogenicity of the SN. Both groups were clinically assessed with the essential and additional diagnostic criteria for RLS established by the International RLS Study Group. Ataxia was evaluated using the Scale for the Assessment and Rating of Ataxia. We did not find significant differences between the mean sum area of SN echogenicity in FRDA patients and in controls. Only one patient in the FDRA group and two control subjects showed SN hypoechogenicity. Two out of the 14 FDRA patients and one of the controls fulfilled diagnostic criteria for RLS. The areas of SN echogenicity in the two FRDA patients with RLS were the lowest found in this group. We conclude that our data do not support the notion that SN hypoechogenicity is related to FRDA itself, although it might be associated with RLS.


Friedreich’ataxiaSubstantia nigraParkinsonismRestless legs syndromeTranscranial sonography



cerebellar dentate nucleus


Friedreich’s ataxia


frataxin gene


restless legs syndrome


Scale for the Assessment and Rating of Ataxia


substantia nigra


transcranial sonography

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • María Sierra
    • 1
    • 2
    • 3
  • Jon Infante
    • 1
    • 2
    • 3
  • José Berciano
    • 1
    • 2
    • 3
  1. 1.Service of NeurologyUniversity Hospital “Marqués de Valdecilla (IFIMAV)”SantanderSpain
  2. 2.University of CantabriaSantanderSpain
  3. 3.Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)SantanderSpain