Asset Details
Do you wish to reserve the book?
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing
Do you wish to request the book?
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing
2026
Overview
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 CLN5, confirming the diagnosis at 10 years and 6 months of age. Subsequent evaluations revealed progressive cerebral and cerebellar atrophy and vision loss. This case underscores the importance of GS in diagnosing rare neurodegenerative diseases and highlights the clinical spectrum of CLN5, which presents with rapid neurological decline. Expanding diagnostic frameworks with genetic testing is critical for early diagnosis and potential therapeutic interventions in CLN5 and related NCL disorders. Key Clinical Message Through the first Japanese case of CLN5, comprehensive genetic testing, such as genome sequencing, proved to be crucial for the accurate and prompt diagnosis of progressive myoclonic epilepsy, emphasizing the need to include rare neurological disorders like CLN5 in differential diagnoses.
Publisher
John Wiley & Sons, Inc,Wiley
Subject
/ Atrophy
/ CLN5
/ Disease
/ Enzymes
/ Epilepsy
/ Gait
/ Genomes
/ neuronal ceroid lipofuscinoses
