Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.
IRCCS Eugenio Medea
30 participants
Jul 7, 2025
INTERVENTIONAL
Conditions
Summary
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.
Eligibility
Inclusion Criteria4
- age between 8 and 60 years;
- genetic diagnosis of FRDA: presence of guanine-adenine trinucleotide (GAA) expansion in the two alleles of the fratassin gene, GAA1 and GAA2;
- score on the Scale for the Assessment and Rating of Ataxia (SARA) \< 30;
- ability to take part in a neuropsychological assessment in Italian.
Exclusion Criteria4
- age different from the range 8-60 years;
- diagnosis of acquired ataxia or other genetic ataxias;
- SARA scale score ≥ 30;
- inability to take part in an Italian-language neuropsychological assessment
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Interventions
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.
Locations(1)
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NCT07095062