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Article

The natural history of infantile neuroaxonal dystrophy.

Orphanet journal of rare diseases - 1 May 2020

Altuame Fadie D, Foskett Gretchen, Atwal Paldeep S, Endemann Sarah, Midei Mark, Milner Peter, Salih Mustafa A, Hamad Muddathir, Al-Muhaizea Mohammad, Hashem Mais, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-independent phospholipase A2. OBJECTIVE: We aim to outline the natural history of INAD and provide a comprehensive description of its clinical, radiological, laboratory, and molecular...

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Identifiers

PMID: 32357911
DOI: 10.1186/s13023-020-01355-2
PMCID: PMC7193406

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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