ArticleAnnals of neurology2020
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Article in Annals of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 51 citations in OpenAlex.
- Emerging insight in genetics and therapies in young-onset Parkinson's disease (YOPD): a comprehensive review.Journal of neurology · 2026Review
- Early-onset Parkinsonism and cognitive delay: think about PPP2R5D.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Neurodevelopmental origins of age-related neurodegenerative diseases.EBioMedicine · 2026Review
- Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities.Journal of community genetics · 2025Article
- Jordan syndrome due toTranslational pediatrics · 2025Article
- Houge-Janssens syndrome.European journal of human genetics : EJHG · 2025Review
- Genetics and Phenotypes of Late-Onset Neurodegeneration in Neurodevelopmental Disorders.Cureus · 2025Review
- Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.American journal of human genetics · 2025Article
- De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.Human molecular genetics · 2025Article
- A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons.Stem cells (Dayton, Ohio) · 2025Article
- Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.Journal of autism and developmental disorders · 2025Article
- Unmasking Protein Phosphatase 2A Regulatory Subunit B as a Crucial Factor in the Progression of Dilated Cardiomyopathy.Biomedicines · 2024Article
- Thirteen New Patients ofChildren (Basel, Switzerland) · 2024Article
- Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.Gait & posture · 2024Observational
- Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.Orphanet journal of rare diseases · 2024Article
- B56δ long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.Cold Spring Harbor molecular case studies · 2023Article
- PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.Brain : a journal of neurology · 2023Article
- Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56δ holoenzyme.bioRxiv : the preprint server for biology · 2023Article
- Multi-omics analysis identifies RFX7 targets involved in tumor suppression and neuronal processes.Cell death discovery · 2023Article
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16 authors at 9 institutions in 3 countries.
Funding
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.