Article
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Annals of neurology - 1 Nov 2020
Kim Christine Y, Wirth Thomas, Hubsch Cécile, Németh Andrea H, Okur Volkan, Anheim Mathieu, Drouot Nathalie, Tranchant Christine, Rudolf Gabrielle, Chelly Jamel, Tatton-Brown Katrina, Blauwendraat Cornelis, Vonsattel Jean Paul G, Cortes Etty, Alcalay Roy N, Chung Wendy K
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.