Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.

Giuseppe d'Orsi,Andrea Farolfi,Lorenzo Muccioli,Orazio Palumbo,Pietro Palumbo,Sergio Modoni, Vincenzo Allegri,Valentina Garibotto,Maria Teresa Di Claudio,Ester Di Muro,Mario Benvenuto,Francesca Bisulli,Massimo Carella

Frontiers in Neurology（2023）

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摘要

Three electroclinical and 18F-FDG PET evolutive stages are useful biomarkers for the progression of LD and could help to evaluate the efficacy of new disease-modifying treatments. The combination of traditional CSF biomarkers improves the diagnostic accuracy of cognitive decline in LD patients, indicating a cognitive impairment of the non-Alzheimer's disease type.

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关键词

follow-up, Lafora disease, electro-clinical features, amyloid biomarkers, neurodegenerative biomarkers, progressive myoclonic epilepsy, 18F-FDG PET

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