Lafora bodies (polyglucosan deposits) were identified in the brain of a young adult cat with neurologic signs characterized by intermittent but progressively worsening head and body tremors. The cerebellar cortex was the most severely affected area of brain, and the deposits were identified within Purkinje cell bodies and processes and throughout the neuropil. The association of Lafora bodies with neurologic signs, occurrence of deposits within neuronal perikarya, and distribution primarily within the cerebellar cortex are features distinct from the more commonly recognized situation in which Lafora bodies occur as incidental lesions in cats.
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http://dx.doi.org/10.1177/030098589803500307 | DOI Listing |
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 PDFBiomed 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 PDFJ Hum Genet
November 2024
Department of Neurology, Qilu Hospital of Shandong University, 250012, Jinan, China.
Lafora disease (LD; OMIM#254780) is a rare form of progressive myoclonus epilepsy characterized by the accumulation of insoluble deposits of aberrant glycogen (polyglucosans), named Lafora bodies (LBs), in the brain but also in peripheral tissues. It is assumed that the accumulation of LBs is related to the appearance of the characteristic pathological features of the disease. In mouse models of LD, we and others have reported an increase in the levels of reactive astrocytes and activated microglia, which triggers the expression of the different pro-inflammatory mediators.
View Article and Find Full Text PDFDis Model Mech
October 2024
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India.
Lafora disease (LD), a fatal neurodegenerative disorder, is caused by mutations in the EPM2A gene encoding laforin phosphatase or NHLRC1 gene encoding malin ubiquitin ligase. LD symptoms include epileptic seizures, ataxia, dementia and cognitive decline. Studies on LD have primarily concentrated on the pathophysiology in the brain.
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