ArticleJIMD reports2025
A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features.
Article in JIMD reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed.
- Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health.Scientific reports · 2026Article
- A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features.JIMD reports · 2025Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This case report highlights an atypical presentation of Canavan disease (CD) in a 13-year-old female with intention tremor and fine motor difficulties. Neuroimaging revealed symmetrical changes in various brain regions initially suggesting a neurometabolic or mitochondrial disorder. However, further investigations, including biochemical analysis and whole genome sequencing, confirmed a diagnosis of CD. Unlike classical presentations, this case exhibited milder symptoms and unusual MRI findings, contributing to the expanding clinical and radiological spectrum of CD. The importance of recognizing such atypical presentations is emphasized for accurate diagnosis and management of CD.
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