Friedreich Ataxia
Conditions
Brief summary
"Friedreich ataxia is the most common inherited autosomal recessive ataxia. It is caused by a GAA repeat expansion in the frataxin gene on chromosome 9q21.11. Symptoms usually begin in childhood, typically between 9 and 13 years of age. The disease leads to progressive damage of the nervous system and the heart, as well as multisystem involvement of various degrees, leading to diabetes, vision and hearing loss and scoliosis. Over time, most patients lose the ability to walk and require a wheelchair, often by their mid-twenties. The severity and progression of the disease can vary depending on various factors such as the age at onset and the size of the GAA triplet expansion. Traditionally, Friedreich ataxia has been considered a disorder primarily affecting nerve cells, also called neuronopathy. However, recent studies using ultrasound imaging of peripheral nerves have shown that some nerves may appear enlarged, particularly in the upper limbs. This is in contrast with findings usually observed in other neuronopathies, where peripheral nerves tend to become thinner. The aim of this study is to use nerve ultrasound to better understand changes in intraneural vascularization and nerve in patients with Friedreich ataxia. In particular, we assess the presence of intraneural blood flow within the nerves using a high-resolution ultrasound technique. The study includes 13 patients with genetically confirmed Friedreich ataxia who are followed at the Neurogenetics Competence Center of Nice University Hospital. Ultrasound examinations are performed on the median and ulnar nerves at standardized locations: for median nerve at wrist, forearm (10 cm from the distal wrist crease), antecubital fossa, mid-arm and axilla; for ulnar nerve at the wrist, forearm (10 cm from the pisiform bone), at the elbow (5 cm below and above the elbow), mid-arm and axilla; the brachial plexus is measured at level C5, C6, C7. In addition to vascularization, we also measure nerve size (cross-sectional area) and evaluate internal nerve structure. This study aims to improve understanding of nerve involvement in Friedreich ataxia and to explore whether ultrasound could provide useful markers of disease severity."
Interventions
DIAGNOSTIC_TESTNerve ultrasound - routine exam
Nerve ultrasound is a widely used imaging modality in clinical practice. It allows for the measurement of nerve cross-sectional area and provides detailed visualization of internal fascicular architecture and vascularization. These features can offer indirect information about underlying nerve pathology, such as inflammation or structural damage. Reference values have been established for different segments of the median and ulnar nerves, as well as for the brachial plexus
Sponsors
Centre Hospitalier Universitaire de Nice
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 70 Years
Healthy volunteers
No
Inclusion criteria
* Patients aged between 18 and 70 years. * Genetically confirmed diagnosis of Friedreich's Ataxia. * Followed at the Neurogenetics Competence Centre, CHU Nice. * Have undergone peripheral nerve ultrasound between December 2025 and April 2026.
Exclusion criteria
* Patients for whom peripheral nerve ultrasound data is unavailable.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Ultrasound assessement of intraneural vascularisation | At the inclusion | Assessement of intraneural vascularisation by Doppler ultrasound 30 mn (composite criterion : clinical data, imaging data) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Ultrasound assessement of peripheral nerve cross sectional area at predefined sites | At the inclusion | Cross sectional area ultrasound measurement in mm of median nerve at wrist, forearm (10 cm from the distal wrist crease), antecubital fossa, mid-armmedian and ulnar nerves at wrist, forearm, mid - arm and ulnar nerve at the wrist, forearm (10 cm from the pisiform bone), at the elbow (5 cm below and above the elbow), mid-arm and axilla. The brachial plexus was measured at level C5, C6, C7 30 minutes (composite criterion : clinical data, imaging data) |
| Ultrasound assessement of peripheral nerve internal structure at predefined sites | At the inclusion | Ultrasound assessement of peripheral nerve echogenicity defined as hypo/hyperechogenic and internal fascicular disposition defined as preserved / loss of internal fascicular pattern (composite criterion : clinical data, imaging data) |
Countries
France
Contacts
CONTACTAndra Ezaru
CONTACTAngela Puma
Outcome results
None listed