Study of Brain Connectivity and Function Using High-Density EEG in Patients Aged 8 to 60 With Friedreichs Ataxia

What this Trial Is About

Researchers are investigating Friedreichs Ataxia FRDA, a progressive neurodegenerative disease caused by mutations in the FXN gene, which leads to reduced frataxin protein and impaired iron regulation. This condition affects motor and sensory functions, as well as cognitive and emotional abilities, due to cerebellar degeneration and changes in brain networks connecting the cerebellum and cortex. The study aims to identify neurophysiological biomarkers and explore how brain connectivity relates to cognitive function and clinical severity, especially in response to rehabilitation. Participants with genetically confirmed FRDA, aged 8 to 60 years and with a SARA score below 30, will undergo high-density electroencephalogram HD-EEG recordings both at rest and during an upper limb motor task. They will also complete detailed neuropsychological testing covering memory, attention, language, visuospatial skills, and other cognitive and emotional areas. Following initial assessments, participants will engage in a 3- to 4-week intensive rehabilitation program. HD-EEG recordings will be repeated after treatment and again one year later to track changes in brain connectivity and identify potential markers linked to disease progression. Throughout the study, participants will be assessed with neuropsychological scales and clinical motor scales SARA and mFARS alongside HD-EEG data collection. The primary measures focus on brain connectivity and functional activity changes from enrollment through treatment and the one-year follow-up. The study will evaluate correlations between brain activity patterns and cognitive and motor function over time, aiming to better understand disease mechanisms. Total study participation will include baseline assessments, rehabilitation, post-treatment evaluations, and long-term follow-up at one year.

Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.