@article{d1af1ac7f7614b1db6fba72a9d0527b3,
title = "Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation",
abstract = "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 the ages of 25 and 40 years. 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. ANN NEUROL 2020;88:1028–1033.",
author = "Kim, {Christine Y.} and Thomas Wirth and C{\'e}cile Hubsch and N{\'e}meth, {Andrea H.} and Volkan Okur and Mathieu Anheim and Nathalie Drouot and Christine Tranchant and Gabrielle Rudolf and Jamel Chelly and Katrina Tatton-Brown and Cornelis Blauwendraat and Vonsattel, {Jean Paul G.} and Etty Cortes and Alcalay, {Roy N.} and Chung, {Wendy K.}",
note = "Publisher Copyright: {\textcopyright} 2020 American Neurological Association",
year = "2020",
month = nov,
day = "1",
doi = "10.1002/ana.25863",
language = "אנגלית",
volume = "88",
pages = "1028--1033",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley & Sons Inc.",
number = "5",
}