ArticleCureus2026
Adult-Onset PLA2G6-Associated Parkinsonism With Claval Hypertrophy: A Rare Radiological-Genetic Association.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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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.
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0 citing papers in PubMed.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A man in his 20s presented with rapidly progressive spastic parkinsonism, right-hand focal dystonia, memory impairment, and behavioural changes over eight months, resulting in complete dependence. Examination showed spasticity, rigidity, bradykinesia, ankle clonus, postural instability, slowed saccades, and cognitive deficits (Mini-Mental State Examination 25/30, Montreal Cognitive Assessment 20/30). Brain magnetic resonance imaging revealed mild cerebellar atrophy, claval hypertrophy, and minimal lentiform susceptibility blooming. Whole-exome sequencing identified a heterozygous pathogenic PLA2G6 variant (c.2222G>A; p.Arg741Gln). No family history was present. Symptomatic treatment with levodopa/carbidopa, trihexyphenidyl, and baclofen yielded partial initial benefit but limited sustained response over six months of follow-up. This case expands the adult-onset PLA2G6-associated neurodegeneration phenotype by combining aggressive progression, early cognitive involvement, and rare infantile-like neuroimaging features with minimal iron deposition.
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