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Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.
EMBO J
January 2025
Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
Polyglucosans are glycogen molecules with overlong chains, which are hyperphosphorylated in the neurodegenerative Lafora disease (LD). Brain polyglucosan bodies (PBs) cause fatal neurodegenerative diseases including Lafora disease and adult polyglucosan body disease (ABPD), for which treatments, biomarkers, and good understanding of their pathogenesis are currently missing. Mutations in the genes for the phosphatase laforin or the E3 ubiquitin ligase malin can cause LD.
View Article and Find Full Text PDFDapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.
Biomed Pharmacother
January 2025
IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, Pisa 56128, Italy.
Lafora disease (LD) is an ultra-rare and still incurable neurodegenerative condition. Although several therapeutic strategies are being explored, including gene therapy, there are currently no treatments that can alleviate the course of the disease and slow its progression. Recently, gliflozins, a series of SGLT2 transporter inhibitors approved for use in type 2 diabetes mellitus, heart failure and chronic kidney disease, have been proposed as possible repositioning drugs for the treatment of LD.
View Article and Find Full Text PDFLafora Disease Presenting with Ataxia and DM1: A Case Study.
Acta Neurol Taiwan
December 2024
Zanjan University of Medical Sciences, Zanjan, Iran.
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years. We believe that it is important to keep the diagnosis of Lafora disease in mind in every child presenting with myoclonus especially when mental and cerebellar deficits develop as well. Keywords: Drug-resistant seizure, Ataxia, Myoclonic jerky movements, Lafora.
View Article and Find Full Text PDFIdentification of biallelic intronic EPM2A mutations in a Lafora disease kindred.
J Hum Genet
November 2024
Department of Neurology, Qilu Hospital of Shandong University, 250012, Jinan, China.
Article Synopsis
- Lafora disease (LD) is a serious genetic disorder leading to seizures, myoclonus, behavioral changes, and eventual dementia, caused primarily by mutations in the EPM2A and NHLRC1 genes.
- This study focuses on a patient with LD and identifies specific intronic mutations in EPM2A that impact mRNA splicing, leading to the disease's symptoms.
- The research highlights the importance of genetic testing in diagnosing LD and expands the understanding of how certain mutations in non-coding regions can contribute to the condition.
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