ArticleClinical case reports2026
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.
Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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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1 citing paper in PubMed.
- First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.Clinical case reports · 2026Article
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10 authors.
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Abstract
Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non-Finnish populations. Here, we report the first Japanese case of CLN5 in a 12-year-old girl with progressive myoclonic epilepsy and psychomotor regression. Initial assessments for common metabolic disorders, including GM2 gangliosidosis, were inconclusive. Trio-based genome sequencing (GS) identified a novel homozygous pathogenic variant in
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