ReviewBMC neurology2020
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
Review in BMC neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Clinical and genetic characteristics ofJournal of medical genetics · 2025Pooled it
- Article
- Therapeutic Advances in Major NBIA Disorders: Current Strategies and Translational Challenges.Neurology international · 2026Review
- PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotype.Neurogenetics · 2026Article
- Effect of deep brain stimulation on early-onset Parkinson's disease with mutations in a Han Chinese Mainland population.BMC neurology · 2026Article
- Case Report: Where is the boundary between autosomal recessive early-onset Parkinson's disease and dystonia-parkinsonism: a case of PLA2G6-associated neurodegeneration.Frontiers in human neuroscience · 2026Article
- iPLA2β Protects Retinal Pigment Epithelium From Ferroptosis in a Sodium Iodate-Induced Model of Dry AMD.Investigative ophthalmology & visual science · 2025Article
- The balancing act between lipid droplets and lysosomes for membrane functionality in age-related neurodegeneration and inflammation.Progress in lipid research · 2025Review
- Genetic Landscape of Dystonia in Asian Indians.Movement disorders clinical practice · 2025Article
- GABAergic neurons are a key cell type in aFrontiers in neuroscience · 2025Article
- A rare inherited homozygous missense variant inTranslational pediatrics · 2024Article
- The Clinical, Radiological and Genetic Spectrum ofTremor and other hyperkinetic movements (New York, N.Y.) · 2024Observational
- A novel variant ofFrontiers in neurology · 2024Article
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- Molecular genetics of neuropsychiatric illness: some musings.Frontiers in genetics · 2023Article
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.Brain sciences · 2022Article
- Non-Motor Symptoms inJournal of clinical medicine · 2022Article
- NovelFrontiers in neurology · 2022Article
- Unusual Presentation ofMovement disorders clinical practice · 2022Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundPhospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. The genotype-phenotype correlation is not well-established. We aim to describe three adult patients with PLAN and combined these data with results from previous studies to elucidate adult-onset PLA2G6 phenotype-genotype correlations. CASE PRESENTATIONS: The first index patient presented with dystonia-parkinsonism starting at age 31 years, accompanied by major depression and cognitive decline. Genetic analysis using targeted next generation sequencing (NGS) panel, Sanger sequencing, and segregation analyses revealed a compound heterozygous mutation, c.991G > T (p.D331Y)/c.1077G > A (M358IfsX), in PLA2G6. The other two patients had levodopa-responsive, early-onset parkinsonism, starting in their late twenties. Both patients had homozygous c.991G > T (p.D331Y) mutations in PLA2G6. Patient characteristics of our reported 3 cases were compared to those of 32 previously described (2008 to 2019) patients with adult-onset PLAN. Among the combined cohort of 35 patients with adult-onset PLAN, 14 had dystonia-parkinsonism, 17 had early-onset Parkinson's disease, 3 had hereditary spastic paraparesis, and one had ataxia. The c.991G > T (p. D331Y) mutation was almost exclusively found in Chinese patients, suggesting a common founder effect. All patients with homozygous p.D331Y mutations had levodopa-responsive, early-onset PD (100%); while other mutations mostly led to dystonia-parkinsonism, ataxia, spasticity, and combine psychiatric comorbidities.
conclusionsWe showed that adult-onset PLAN could present as purely parkinsonism features, without brain iron accumulation, particularly patients with homozygous p.D331Y mutations. Compound heterozygous mutations, including heterozygous p.D331Y, produced heterogeneous phenotypes, without obvious levodopa responsiveness.
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