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Article

Clinicoradiologic Features and Genetic Findings of Infantile Neuroaxonal Dystrophy.

Journal of child neurology - 1 Mar 2026

Sarigecili Esra, Ucar Habibe Koc, Bozdogan Sevcan Tug, İncecik Faruk

Abstract excerpt

Infantile neuroaxonal dystrophy (INAD) is an extremely rare neurodegenerative disorder affecting 1 in 1 000 000 children. The PLA2G6 gene mutation is associated with infantile neuroaxonal dystrophy. Symptoms typically begin between 6 and 18 months of age, leading to neurodegeneration, particularly impacting motor skills. This article presents 7 pediatric cases (aged 12 months to 11 years) clinically and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40754933
DOI: 10.1177/08830738251360216

Genes

PLA2G6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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