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PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotype.

Neurogenetics - 23 Mar 2026

Gupta Nayan, Kumar Mritunjai, Tiwari Ashutosh, Rathinasabapathi Muneeshwaran

Abstract excerpt

PLA2G6-associated neurodegeneration (PLAN) is a rare autosomal recessive disorder with broad clinical spectrum, encompassing extrapyramidal, cognitive, and behavioural features, even among patients carrying the similar variant. We describe three young males, all harbouring same homozygous c.2222G > A (p.Arg741Gln) variant in PLA2G6, each exhibiting distinct phenotypes: one developed early-onset parkinsonism,...

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Identifiers

PMID: 41866441
DOI: 10.1007/s10048-026-00897-0

Genes

PLA2G6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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