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Article Dans Une Revue Annals of Neurology Année : 2020

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

Katrina Tatton-Brown
  • Fonction : Auteur

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 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.
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Dates et versions

hal-03698378 , version 1 (01-03-2023)

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Christine Y. Kim, Thomas Wirth, Cécile Hubsch, Andrea H. Nemeth, Volkan Okur, et al.. Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. Annals of Neurology, 2020, 88 (5), pp.1028-1033. ⟨10.1002/ana.25863⟩. ⟨hal-03698378⟩
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