Evidence map›Paper›PMID 41712152›Full record

ArticleIndian journal of pediatrics2026

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

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

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Article in Indian journal of pediatrics, 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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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Savi SetiaDepartment of Pediatrics, Child Neurology Division, All India Institute of Medical Sciences, Bathinda, Punjab, India.
Aakash MahesanDepartment of Pediatrics, Child Neurology Division, Maa Kauvery Women and Child Hospital, Trichy, Tamil Nadu, India.
Puneet Kumar ChaudharyDepartment of Pediatrics, All India Institute of Medical Sciences, Patna, Bihar, India.
Ratan GuptaDepartment of Pediatrics, Child Neurology Division, All India Institute of Medical Sciences, Bathinda, Punjab, India.
K P VinayanDepartment of Pediatric Neurology, Amrita Institute of Medical Sciences, Cochin, Kerala, India.
Vaishakh AnandDepartment of Pediatric Neurology, Amrita Institute of Medical Sciences, Cochin, Kerala, India.
Sameer PeerDepartment of Radiodiagnosis, All India Institute of Medical Sciences, Bathinda, Punjab, India.
Balachandar VellingiriNeurobiology (Ageing and Pediatrics) Laboratory, Department of Zoology, Central University of Punjab, Bathinda, Punjab, India.
Arvinder WanderDepartment of Pediatrics, Child Neurology Division, All India Institute of Medical Sciences, Bathinda, Punjab, India. wander1686@gmail.com.ORCID 0009-0002-4949-9706

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 global development delay, neuro-regression, ataxia, nystagmus, gait impairment in infantile onset forms and dystonia, behavioral issues and parkinsonism in childhood onset forms. MRI showed cerebellar atrophy as characterized in literature. However, iron deposition patterns characteristic of other NBIA, like ‘eye of the tiger’ sign in PKAN and ‘globus pallidus split sign’ in MPAN were seen in one patient each which is novel to PLAN and not reported before. Treatment was mainly supportive therapy. Levodopa yielded partial benefit in two children. Most patients progressed to severe motor disability.

Indexed as

Group VI Phospholipases A2Iron Metabolism DisordersNeuroaxonal DystrophiesNeurodegenerative DiseasesChildChild, PreschoolFemaleHumansIndiaInfantMagnetic Resonance ImagingMalePhenotypeGroup VI Phospholipases A2PLA2G6 protein, humanAtypical neuroaxonal dystrophyDystonia-parkinsonismInfantile neuroaxonal dystrophyNeurodegeneration with brain iron accumulationPLA2G6-associated neurodegeneration

Identifiers

PMID41712152

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