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FARAFARA Cure FA

Developmental and Neurodegenerative Damage in Friedreich Ataxia

Friedreich's ataxia (FRDA) is the most common autosomal-recessive ataxia worldwide; it is characterized by early onset, sensory abnormalities and slowly progressive ataxia. This group designed a cross sectional multimodal MRI-based study to investigate the anatomical substrates involved in the early stages of FRDA. They enrolled 37 patients (12 children) and 38 controls. All subjects underwent magnetic resonance imaging in a 3T device to assess gray and white matter. They used a variety of techniques to look at the cerebral and cerebellar cortices, deep grey matter, microstructural abnormalities in brain white matter, and in the cervical spinal cord. Comparison with age-matched controls showed that pediatric patients have spinal cord, inferior cerebellar peduncle and red nucleus damage. In contrast, the adult patients showed more widespread white matter damage than pediatric patients. Regarding grey matter, they found cortical thinning at the left central sulcus and volumetric reduction in the thalami and hippocampi only in adult patients. Finally, values of FA in adult patients and RD in pediatric patients from inferior cerebellar peduncle correlated with disease duration and ataxia severity, respectively.

The authors conclude that structural damage in FRDA begins in spinal cord, inferior cerebellar peduncle as well as red nucleus, and progresses to cerebral areas in adulthood. These results shed some light in the early FRDA stages and highlight potential neuroimaging markers for therapeutic trials.

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About the Author

Jane Larkindale

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