| Literature DB >> 32743835 |
Christine Y Kim1,2, Thomas Wirth3,4,5, Cécile Hubsch6, Andrea H Németh7, Volkan Okur8, Mathieu Anheim4,5,9, Nathalie Drouot5, Christine Tranchant4,5,9, Gabrielle Rudolf4,5,9, Jamel Chelly4,5,10, Katrina Tatton-Brown11, Cornelis Blauwendraat12, Jean Paul G Vonsattel13, Etty Cortes14, Roy N Alcalay15,16, Wendy K Chung8,17.
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.Entities:
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Year: 2020 PMID： 32743835 PMCID： PMC9052555 DOI： 10.1002/ana.25863
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 11.274