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 BhatiaPublished 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.
Keyphrases
- early onset
- late onset
- magnetic resonance imaging
- cognitive impairment
- drug induced
- parkinson disease
- mental health
- spinal cord injury
- computed tomography
- intellectual disability
- white matter
- randomized controlled trial
- resting state
- systematic review
- multiple sclerosis
- magnetic resonance
- functional connectivity
- botulinum toxin