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Article

Neurodegeneration associated with genetic defects in phospholipase A(2).

Neurology - 28 Oct 2008

Gregory A, Westaway S K, Holm I E, Kotzbauer P T, Hogarth P, Sonek S, Coryell J C, Nguyen T M, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick S J

Abstract excerpt

OBJECTIVE: Mutations in the gene encoding phospholipase A(2) group VI (PLA2G6) are associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy (INAD) and idiopathic neurodegeneration with brain iron accumulation (NBIA). INAD is a severe progressive psychomotor disorder in which axonal spheroids are found in brain, spinal cord, and peripheral nerves. High globus pallidus iron is an...

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Identifiers

PMID: 18799783
DOI: 10.1212/01.wnl.0000327094.67726.28
PMCID: PMC2676964

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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