Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

P. Luca, G. Alessia, R.-E.M. Camilla, N. Antonio, M. Diego, D. Federica, D. Daria, C. Rosalba, D.-V. Carlo, L. Daniela

Research output: Contribution to journalArticlepeer-review


Purpose: Spinal cord involvement in Kearns-Sayre (KSS) syndrome could be more frequent than commonly thought. Our aims were to evaluate the involvement of the spinal cord in patients with KSS by means of MRI and to investigate possible correlations of spinal and brain disease with patient disability. Methods: Eleven patients with KSS disease and spinal cord MRI were retrospectively recruited. The severity of spinal disease was defined as follows: grade 0 (none), grade 1 (focal), and grade 2 (extensive). We calculated a radiologic score of brain involvement based on typical features. We performed a chi-square test to correlate spinal cord and brain MRI involvement to patient disability. For significant variables, a contingency coefficient, phi factor, and Cramer’s V were also computed. Results: Spinal cord lesions were detected in 6/11 patients, showing four patterns: involvement of gray matter, gray matter and posterior columns, posterior columns, and anterior columns. The severity of spinal disease was grade 1 in two and grade 2 in four patients. All patients showed brain involvement (9-point average for patients with spinal involvement and 10 for the others). A significant correlation was found between disability score and spinal cord involvement (χ2 = 7.64; p = 0.022) or brain score (χ2 = 26.85; p = 0.043). Significance for brain score-disability correlation increased with the spinal cord as a cofactor (χ2 = 24.51; p = 0.017, phi factor = 1.201, Cramer’s V = 0.849, contingency effect = 0.767; p = 0.017). Conclusion: Spinal cord lesions are common in KSS. Patients with spinal disease show higher disability than patients without spinal cord lesions, supporting the inclusion of dedicated acquisitions to routine MRI of the brain in patients with KSS. © 2020, The Author(s).
Original languageEnglish
Pages (from-to)1315-1321
Number of pages7
Issue number10
Publication statusPublished - 2020


  • Kearns-Sayre syndrome
  • Mitochondrial disease
  • MRI
  • Spinal cord
  • mitochondrial DNA
  • adolescent
  • adult
  • Article
  • brain disease
  • child
  • clinical article
  • clinical assessment
  • clinical evaluation
  • clinical feature
  • disease duration
  • disease severity
  • female
  • gray matter
  • human
  • Kearns Sayre syndrome
  • male
  • neuroimaging
  • nuclear magnetic resonance imaging
  • outcome assessment
  • preschool child
  • priority journal
  • retrospective study
  • school child
  • spinal cord disease
  • spinal cord lesion
  • spine radiography
  • young adult


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