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Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Author(s) -
Alves Cesar A. P. F.,
Teixeira Sara R.,
MartinSaavedra Juan S.,
Guimarães Gonçalves Fabrício,
Lo Russo Francesco,
Muraresku Colleen,
McCormick Elizabeth M.,
Falk Marni J.,
ZolkipliCunningham Zarazuela,
Ganetzky Rebecca,
Vossough Arastoo,
Goldstein Amy,
Zuccoli Giulio
Publication year - 2020
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25789
Subject(s) - neuroimaging , etiology , magnetic resonance imaging , neuroscience , medicine , leigh disease , psychology , pathology , biology , genetics , mutation , gene , radiology
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.