Article

Clinical, Neuroimaging, and Molecular Characterization of a <em>PLA2G6</em>-Associated Neurodegeneration Phenotype in Two Siblings Carrying p.Arg645Gln and an Exon 4–7 Copy-Number Gain: A Case Report

2026-08-18

Abstract excerpt

<h4>Background: </h4> /Objectives: PLA2G6-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative spectrum encompassing infantile, juvenile/atypical, and adult-onset phenotypes. Juvenile PLAN may initially resemble autism spectrum disorder or nonspecific developmental regression, delaying diagnosis. Case Presentation: We describe a 14-year-old boy and his 9-year-old sister, both with initia...

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Literature Corpus work: 6c8e095b-33f4-50ba-b553-c9a6e3af052c
DOI: 10.20944/preprints202608.1162.v1

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Clinical, Neuroimaging, and Molecular Characterization of a <em>PLA2G6</em>-Associated Neurodegeneration Phenotype in Two Siblings Carrying p.Arg645Gln and an Exon 4–7 Copy-Number Gain: A Case ReportDOI 10.20944/preprints202608.1162.v1Read

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