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Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Francesca MagrinelliSahil MehtaGiulia Di LazzaroAnna LatorreMark J EdwardsBettina BalintPurba BasuChristopher KobyleckiSergiu GroppaAnaita HegdeEoin MulroyCarlos Estevez-FragaAnshita AroraHrishikesh KumarSusanne A SchneiderPatrick A LewisZane JaunmuktaneTamas ReveszSonia GandhiNicholas W WoodJohn A HardyMichele TinazziVivek LalHenry HouldenKailash P Bhatia
Published in: Movement disorders : official journal of the Movement Disorder Society (2021)
Biallelic PLA2G6 mutations cause early-onset parkinsonism associated with dystonia, pyramidal and cerebellar signs, myoclonus, and cognitive impairment. Early psychiatric manifestations and bladder overactivity are common. Cerebro/cerebellar atrophy are frequent magnetic resonance imaging features, whereas brain iron deposition is not. Early, severe dyskinesias are a tell-tale sign. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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