ArticleGenes2026
Clinical, 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 Report.
Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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Authors and funding
5 authors.
Funding
Abstract
PLA2G6-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative spectrum encompassing infantile, juvenile/atypical and adult-onset phenotypes. Juvenile PLAN may initially resemble autism spectrum disorder or nonspecific developmental regression, delaying diagnosis. We describe a 14-year-old boy and his 9-year-old sister, both with initially normal early development, followed by progressive gait impairment, speech and cognitive regression, epilepsy or paroxysmal events, contractures and loss of independent ambulation. Brain MRI in both siblings demonstrated marked symmetric cerebellar atrophy, susceptibility-weighted hypointensity of the globus pallidus and substantia nigra compatible with iron accumulation and bilateral optic nerve thinning. Electroneurography showed selective motor axonal involvement. Molecular testing identified the same two heterozygous
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