AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases
Acta Neurologica Scandinavica2018Vol. 138(4), pp. 278–283
Citations Over TimeTop 17% of 2018 papers
Ilaria Taglia, Ilaria Di Donato, Silvia Bianchi, Alfonso Cerase, Lucia Monti, R. Marconi, Alfredo Orrico, Alessandra Rufa, Antonio Federico, M. T. Dotti
Abstract
We recommend screening for mutations in AARS2 gene in CSF1R-negative patients, also in the absence of a clear family history and peculiar MRI findings. Our results also suggest that findings of conventional MRI and MR spectroscopy may be useful in prompting the genetic screening.
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