Early-onset parkinsonism is a manifestation of the PPP2R5D p.E200K mutation.
Fiche publication
Date publication
août 2020
Journal
Annals of neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Kim CY, Wirth T, Hubsch C, Németh AH, Okur V, Anheim M, Drouot N, Tranchant C, Rudolf G, Chelly J, Tatton-Brown K, Blauwendraat C, Vonsattel JPG, Cortes E, Alcalay RN, Chung WK
Lien Pubmed
Résumé
PPP2R5D-related neurodevelopmental disorder is characterized by a range of neurodevelopmental and behavioral manifestations. We report the association of early-onset parkinsonism with the PPP2R5D p.E200K mutation. Clinical characterization and exome sequencing were performed on three patients, with postmortem neuropathologic examination for one patient. All patients had mild developmental delay and developed levodopa-responsive parkinsonism between ages 25 to 40. The PPP2R5D c.598G>A (p.E200K) mutation was identified in all patients. Neuropathologic examination demonstrated uneven, focally severe neuronal loss and gliosis in the substantia nigra pars compacta, without Lewy bodies. Our findings suggest the PPP2R5D p.E200K mutation to be a possible new cause of early-onset parkinsonism. This article is protected by copyright. All rights reserved.
Référence
Ann. Neurol.. 2020 Aug 3;: