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November 9, 2025Arquivos de Neuro-PsiquiatriaOpen Access

Clinical spectrum of the PLA2G6 gene

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Authors

RCRenan Brandão Rambaldi CavalheiroUniversidade Federal de São PauloKPKaliny Oliveira PeixotoUniversidade Federal de São PauloJBJoão Paulo BarileUniversidade Federal de São Paulo

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Overview

Observational analysis describes varied clinical presentations in PLA2G6-related neurodegeneration, highlighting urgent treatment needs.

Key Points

  • Pathogenic variants in the PLA2G6 gene result in variable clinical manifestations, with axonal loss and generalized epilepsy observed.
  • Among four patients, two exhibited symptoms of PLA2G6-related dystonia-parkinsonism, indicating a complex phenotype.
  • Patients presented with myoclonus and distinctive brain magnetic resonance imaging abnormalities, including cortical atrophy.
  • Recognition of PLA2G6-related conditions is crucial for timely diagnosis and the development of disease-modifying treatments.

Cite This Study

Cavalheiro et al. (2024) studied this question.

synapsesocial.com/papers/690fdce2f60c54d04ea3851dhttps://doi.org/10.5327/cbn240396
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Case Report: Where is the boundary between autosomal recessive early-onset Parkinson’s disease and dystonia-parkinsonism: a case of PLA2G6-associated neurodegeneration2026
  2. 2A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review2024 · 3 citations
  3. 3Clinical, Neuroimaging, and Molecular Characterization of a Juvenile PLAN-like Phenotype in Two Siblings Carrying p.Arg645Gln and an Unresolved Exon 4–7 Copy-Number Gain: A Case Report2026
  4. 4A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age2026
  5. 5Unveiling the role of iPLA2β in neurodegeneration: From molecular mechanisms to advanced therapies2024 · 16 citations