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Cognitive and functional connectivity alterations in Friedreich's ataxia

The aim of this study was to perform the first resting-state functional MRI (RS-fMRI) analysis in Friedreich's ataxia (FRDA) patients to assess possible brain functional connectivity (FC) differences in these patients, and test their correlations with neuropsychological performances. 24 FRDA patients (M/F: 15/9, mean age 31.3 ± 15.0) and 24 healthy controls (HC; M/F: 15/9, mean age 30.7 ± 15.5) were enrolled in this cross-sectional study. All patients underwent a thorough neuropsychological battery, investigating different cognitive domains. RS-fMRI data were analyzed, probing the FC of cortical areas potentially referable to specific executive and cognitive functions compromised in FRDA. Compared to HC, FRDA patients showed overall worse neuropsychological scores in several domains. Analysis of RS-fMRI data showed a higher FC in FRDA patients compared to HC in certain brain regions, and a reduced FC in other regions. The authors conclude that there may be a compensatory phenomenon in connectivity between different brain regions. These results, in conjunction with clinical findings, may shed new light on the pattern of involvement of different parts of the brain, and on dynamics of brain plasticity in this disease.

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