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Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.

Xavier AyrignacClarisse Carra-DallièrePekes CodjiaKevin MouzatGiovanni CastelnovoEmmanuel EllieFrédérique Etcharry-BouyxSerge BelliardCecilia MarelliFlorence PortetIsabelle Le BerFrancoise Durand-DubiefGuillaume MatheyBruno StankoffImen DorbozSeverine DrunatOdile Boespflug-TanguyNicolas Menjot de ChampfleurSerge LumbrosoFanny MochelPierre Labauge
Published in: European journal of neurology (2021)
Diagnostic criteria for ALSP have an overall limited sensitivity along with a modest specificity. We suggest that in patients suspected of genetic leukoencephalopathy, a comprehensive magnetic resonance imaging pattern-based approach is warranted, together with white matter gene panel or whole exome sequencing.
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