Prospective, exploratory, multicenter pilot study investigating the structural and functional connectome in patients with Friedreich's Ataxia (FRDA) using high-density electroencephalogram (HD-EEG). The aim is to identify neurophysiological biomarkers and analyze the relationship between cortical connectivity, cognitive functioning, and clinical severity, particularly in response to rehabilitation treatment.
Friedreich's Ataxia (FRDA) is a progressive neurodegenerative disease caused by mutations in the FXN gene, resulting in a reduction in the mitochondrial protein frataxin and a dysfunction in iron homeostasis. In addition to motor and sensory impairments, FRDA also results in cognitive and emotional deficits. Pathophysiologically, it is associated with cerebellar degeneration and alterations in cerebello-cortical networks. The present study proposes a novel HD-EEG-based approach to analyze brain activity at resting-state and during the performance of a motor task (task-based) in subjects with FRDA. Thirty patients with confirmed genetic diagnosis, age between 8 and 60 years, and SARA score \<30 will be recruited. EEG recordings will be performed in resting condition and during an upper limb motor task. In addition to neurophysiological measures, each participant will undergo a comprehensive neuropsychological evaluation, including memory, attention, language, visuospatial skills, praxis, executive functions, emotional and personality aspects. Connectivity data will be correlated with cognitive profiles and scores on the SARA and mFARS clinical scales.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
30
Participants will undergo high-density EEG (HD-EEG) recordings under two conditions: at rest and while performing an upper limb motor task. The data obtained will be used to reconstruct source cortical activity and derive patterns of functional connectivity, using advanced neurophysiological analysis techniques, including the Avalanche Transition Matrix (ATM). In addition, patients will complete a neuropsychological assessment and participate in an intensive multidisciplinary rehabilitation program lasting 3 to 4 weeks, depending on age. The intervention aims to assess changes in the functional organization of the brain before and after treatment, as well as one year later, in order to explore potential biomarkers of disease progression.
IRCCS Eugenio Medea / Associazione la Nostra Famiglia
Conegliano, Treviso, Italy
RECRUITINGConnectivity profile derived from HD-EEG in subjects with FRDA.
Characterization of alterations in the connectome derived from the HD-EEG of subjects with FRDA compared with matched controls;
Time frame: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up
Functional activity derived from HD-EEG in subjects with FRDA.
Evaluation of functional connectivity as a biomarker in the evolution of FRDA
Time frame: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up
Correlation between functional connectivity/activity and quantitative parameters derived from neuropsychological scales. Correlation between functional connectivity/activity and quantitative parameters derived from motor scales (SARA and mFARS).
1. acquisition of new knowledge about the neuronal basis of impaired neurocognitive functioning in FRDA; 2. evaluation of possible correlations with disease severity scales pre- and post-rehabilitation treatment.
Time frame: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up
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