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Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI

Friedreich's ataxia (FRDA) is the most common autosomal-recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and slowly progressive ataxia. However, some individuals manifest the disease after the age of 25 years and are classified as late-onset FRDA (LOFA). Therefore, we propose a MRI-based study to investigate which anatomical substrates are involved in classical (cFRDA) and LOFA.

The group enrolled 36 patients (13 with LOFA) and 29 healthy controls. All subjects underwent magnetic resonance imaging to assess gray and white matter in specific structures. They found that both groups presented gray matter atrophy mostly in the motor cortex. They found white matter abnormalities in the cerebellar peduncles, pyramidal tracts, midbrain, pons, and medulla oblongata for both groups, but the microstructural abnormalities in the cFRDA group were more widespread. In addition, they found that the corticospinal tract presented more severe microstructural damage in the LOFA group. Finally, the midbrain volume of the cFRDA, but not of the LOFA group, correlated with disease duration and severity.

The cFRDA and LOFA groups have similar, but not identical neuroimaging damage pattern. These structural differences might help to explain the phenotypic variability observed in FRDA.

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About the Author

Jen Farmer

Jen Farmer

Executive Director

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