Article

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome Sequencing

2025-01-09

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCL) are inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, due to intracellular accumulation of lipofuscin. CLN5, a subtype manifesting from ages 4 to 17, is particularly rare in non-Finnish populations. Here, we report Japanese first case of CLN5 in an 11-year-old girl with progressive

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Literature Corpus work: 648e6710-2df3-5417-aaf6-500f0d9a7206
DOI: 10.22541/au.173641430.05097659/v1

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