Scientific article
Open access

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

Published inFrontiers in neurology, vol. 14, 1202971
Publication date2023
First online date2023-06-28

Purpose: To evaluate the electro-clinical features in association with laboratory and instrumental correlates of neurodegeneration to detect the progression of Lafora disease (LD).

Methods: We investigated the electro-clinical longitudinal data and CSF Aβ42, p-tau181and t-tauAg, amyloid, and18F-FDG PET of five unrelated LD families.

Results: Three progressive electro-clinical stages were identified. The early phase was characterized by rare, generalized tonic-clonic and focal visual seizures, followed by the occurrence of myoclonus after a period ranging from 2 to 12 months. The intermediate stage, usually occurring 2 years after the onset of epilepsy, is characterized by a worsening of epilepsy and myoclonus associated with progressive dementia and cerebellar signs. Finally, the late stage, evolving after a mean period of 7 ± 1.41 years from the onset of the disease, was characterized by gait ataxia resulting in bedriddenness, severe dementia, daily/pluri-daily myoclonus, drug-resistant epilepsy, clusters of seizures or status epilepticus, and medical complications. Amyloid (CSF Aβ42, amyloid PET) and neurodegenerative (CSF p-tau181and t-tauAg, FDG-PET) biomarkers indicate a pattern of cognitive impairment of the non-Alzheimer's disease type. A total of 80% of the LD patients showed more severe hypometabolism in the second FDG-PET scan compared to the first scan performed in a lower phase; the lateral temporal lobe and the thalamus hypometabolism were associated with the presence of intermediate or late phase.

Conclusions: 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.

  • 18F-FDG PET
  • Lafora disease
  • Amyloid biomarkers
  • Electro-clinical features
  • Follow-up
  • Neurodegenerative biomarkers
  • Progressive myoclonic epilepsy
Citation (ISO format)
D’ORSI, Giuseppe et al. Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease. In: Frontiers in neurology, 2023, vol. 14, p. 1202971. doi: 10.3389/fneur.2023.1202971
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Article (Published version)
ISSN of the journal1664-2295

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