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Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients

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Abstract

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.

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Abbreviations

CDN:

cerebellar dentate nucleus

FRDA:

Friedreich’s ataxia

FRN:

frataxin gene

RLSS:

restless legs syndrome

SARA:

Scale for the Assessment and Rating of Ataxia

SN:

substantia nigra

TCS:

transcranial sonography

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Authors and Affiliations

  1. Service of Neurology, University Hospital “Marqués de Valdecilla (IFIMAV)”, 39008, Santander, Spain

    María Sierra, Jon Infante & José Berciano

  2. University of Cantabria, Santander, Spain

    María Sierra, Jon Infante & José Berciano

  3. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain

    María Sierra, Jon Infante & José Berciano

Authors
  1. María Sierra
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  2. Jon Infante
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  3. José Berciano
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Correspondence to José Berciano.

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Sierra, M., Infante, J. & Berciano, J. Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients. Cerebellum 12, 437–440 (2013). https://doi.org/10.1007/s12311-012-0434-y

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  • DOI: https://doi.org/10.1007/s12311-012-0434-y

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