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

ABSTRACT:

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-tau₁₈₁ and t-tauAg, amyloid, and ¹⁸F-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 a

SUBMITTER: d'Orsi G 

PROVIDER: S-EPMC10337130 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature