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Article

Expanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.

Indian journal of pediatrics - 1 Apr 2026

Setia Savi, Mahesan Aakash, Chaudhary Puneet Kumar, Gupta Ratan, Vinayan K P, Anand Vaishakh, Peer Sameer, Vellingiri Balachandar, Wander Arvinder

Abstract excerpt

PLA2G6-associated neurodegeneration (PLAN) is a rare subtype of neurodegeneration with brain iron accumulation (NBIA). It encompasses infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), and dystonia-parkinsonism (DP). This study, one of the largest cohorts from India, reports ten children of Indian origin, their clinical, radiological, and genetic features. Clinical features included...

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Identifiers

PMID: 41712152
DOI: 10.1007/s12098-026-06008-z

Genes

PLA2G6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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