Article
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Journal of neurology - 1 Sept 2023
Benzoni Chiara, Moscatelli Marco, Farina Laura, Magri Stefania, Ciano Claudia, Scaioli Vidmer, Alverà Sara, Cammarata Gabriella, Bianchi-Marzoli Stefania, Castellani Massimo, Zito Felicia Margherita, Marotta Giorgio, Piacentini Sylvie, Villacara Alberto, Mantegazza Renato, Gellera Cinzia, Durães João, Gouveia Ana, Matos Anabela, do Carmo Macário Maria, Pareyson Davide, Taroni Franco, Di Bella Daniela, Salsano Ettore
Abstract excerpt
BACKGROUND: Leukodystrophy with vanishing white matter (LVWM) is an autosomal recessive disease with typical pediatric-onset caused by mutations in one of the five EIF2B genes. Adult-onset (AO) cases are rare. METHODS: In this observational study, we reviewed clinical and laboratory information of the patients with AO-LVWM assessed at two referral centers in Italy and Portugal from Jan-2007 to Dec-2019. RESULTS:...
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