ArticleJournal of pediatric neurosciences
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.
Article in Journal of pediatric neurosciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05440994 (Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations), which is not on this map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Article
- Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder.Clinical case reports · 2026Article
- Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.Medicina (Kaunas, Lithuania) · 2024Review
- A novel variant ofFrontiers in neurology · 2024Article
- Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.Neurogenetics · 2023Article
- NovelFrontiers in neurology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.