ArticleIranian journal of child neurology2022
Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations.
Article in Iranian journal of child neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder.Clinical case reports · 2026Article
- Infantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.AIMS neuroscience · 2025Review
- Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.Medicina (Kaunas, Lithuania) · 2024Review
- A rare inherited homozygous missense variant inTranslational pediatrics · 2024Article
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Authors and funding
5 authors.
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Abstract
Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative disorder manifested by symptoms like hypotonia, extrapyramidal signs, spastic tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and dementia before the age of three. Various reports evaluated the relationship between the incidence of INAD and different mutations in the PLA2G6 gene. We described cases of two children with INAD whose diagnoses were challenging due to misleading findings and a mutation in the C.2370 T>G (p. Y790X) in the PLA2G6 gene based on NM_001349864, which has been reported previously.
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