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. 2020 Aug;88(2):218-232.
doi: 10.1002/ana.25789. Epub 2020 Jun 13.

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Cesar A P F Alves  1 , Sara R Teixeira  1 , Juan S Martin-Saavedra  1 , Fabrício Guimarães Gonçalves  1 , Francesco Lo Russo  1 , Colleen Muraresku  2 , Elizabeth M McCormick  2 , Marni J Falk  2   3 , Zarazuela Zolkipli-Cunningham  2   3 , Rebecca Ganetzky  2   3 , Arastoo Vossough  1 , Amy Goldstein  2   3 , Giulio Zuccoli  1   4
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Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Cesar A P F Alves et al. Ann Neurol. 2020 Aug.

Abstract

The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description of central nervous system lesions in Leigh syndrome and their biological evolution in view of their genetic and clinical findings. Our study adds new neurodiagnostic insights to the current knowledge of Leigh syndrome, including association with overlapping syndromes, and the correlation of pathogenic genetic variants with neuroimaging phenotypes. ANN NEUROL 2020;88:218-232.

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References

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