| Literature DB >> 32445240 |
Cesar A P F Alves1, Sara R Teixeira1, Juan S Martin-Saavedra1, Fabrício Guimarães Gonçalves1, Francesco Lo Russo1, Colleen Muraresku2, Elizabeth M McCormick2, Marni J Falk2,3, Zarazuela Zolkipli-Cunningham2,3, Rebecca Ganetzky2,3, Arastoo Vossough1, Amy Goldstein2,3, Giulio Zuccoli1,4.
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.Entities:
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Year: 2020 PMID： 32445240 DOI： 10.1002/ana.25789
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422