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Article

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Orphanet journal of rare diseases - 18 Oct 2024

Kurtovic-Kozaric Amina, Singer-Berk Moriel, Wood Jordan, Evangelista Emily, Panwala Leena, Hope Amanda, Heinrich Stefanie M, Baxter Samantha, Kiel Mark J

Abstract excerpt

BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism. INAD is an early onset disease characterized by progressive loss of vision, muscular control, and mental skills. The prevalence of PLA2G6-associated diseases has not been...

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Gene Frequency
Group VI Phospholipases A2
Metalloenzymes and iron-sulfur proteins
Mutation
Neuroaxonal Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurodegenerative Diseases

Neurological diseases and metabolism

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Open in PubMed Open full text

Identifiers

PMID: 39425167
DOI: 10.1186/s13023-024-03275-x
PMCID: PMC11489993

Genes

PLA2G6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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