Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. At the neurophysiological level, FA is characterised by neuronal loss affecting the dorsal root ganglia, spinal cord and cerebellum. At present, daily exercise is the only way to combat the disease. There is no cure for Friedreich's ataxia. Clinically, FA mainly combines balance, movement coordination, articulation (dysarthria) with cardiac involvement and sometimes diabetes . After a few years of evolution, walking is no longer possible. Recent data ; also indicate disturbances in information processing and cognitive functioning. In short, FA involves adolescents who progressively lose walking, writing and speech for some; however, each patient progresses differently with respect to the disease, and this is the case with respect to motor and cognitive symptoms.
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The study will involve two groups: * a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital * a control group comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study.
Case-control
Prospective
Not listed
characterization of the cognitive profile of patients suffering from Friedreich's Ataxia as a function of the number of GAA triplet repeats in the allele of the FXN gene that contains the least number of repeats.
Correlation of cognitive test scores
Characterization of the motor profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Correlation of motor test scores with demographic variables demographic variables, disease parameters
Characterization of the executive profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Correlation of scores on tests of executive functions
Characterization of the speech production profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease
Correlation of speech production assessment test scores with demographic variables, disease-related parameters
To determine which dimensions of cognitive functioning are affected in patients with Friedreich's Ataxia and to verify the sensitivity of tests aimed at evaluating these dimensions to detect deficits in patients compared to healthy healthy subjects.
Comparison of motor test scores between patients and controls. Comparison of executive function test scores between patients and controls. Comparison of speech evaluation test scores between patients and controls.
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