Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Ann Neurol
; 88(5): 1028-1033, 2020 11.
Article
em En
| MEDLINE
| ID: mdl-32743835
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;881028-1033.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtornos Parkinsonianos
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Proteína Fosfatase 2
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article