ArticleOrphanet journal of rare diseases2020
The infantile neuroaxonal dystrophy rating scale (INAD-RS).
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- Neurodevelopmental regression Due to PLA2G6-associated neurodegeneration despite normal brain MRI: a case report.Frontiers in pediatrics · 2026Article
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Association of Novel Pathogenic Variant (p. Ile366Asn) inInternational journal of molecular sciences · 2025Article
- Infantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.AIMS neuroscience · 2025Review
- [Clinical features of sleep-disordered breathing in children with neuromuscular disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two cases.JIMD reports · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundINAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in PLA2G6. The downstream enzyme, iPLA
methodsWe have developed and validated a structured neurological examination for INAD (scored out of 80). The examination includes six main categories of pediatric developmental evaluation: 1) gross motor-and-truncal-stability skills, 2) fine motor skills, 3) bulbar function, 4) ocular function, 5) temporo-frontal function, and, 6) Functional evaluation of the autonomic nervous system. A cohort of patients diagnosed with INAD were followed prospectively to validate the score against disease severity and disease progression.
resultsWe show significant correlation between the total neurological assessment score and months since symptom onset with a statistically significant (p = 6.7 × 10
conclusionWe have developed and validated a novel neurological assessment score in INAD that demonstrates strong correlation with disease severity and disease progression.
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