Objective: To evaluate abnormalities in the entire spinal cord in patients with Friedreich’s ataxia (FRDA) compared to healthy controls using magnetic resonance imaging (MRI) and assess associations with clinical measures.

Background: FRDA is a spinocerebellar neurodegenerative disorder and the most common of inherited ataxias. While cervical spinal cord atrophy is considered to be the hallmark of the disease, no quantitative volumetric data are available about the entire spinal cord in FRDA.

Methods: Twelve genetically confirmed FRDA patients (mean age 31.3 ± 11.3 years, 6 male) and 7 controls (mean age 32.3 ± 9.3 years, 4 male) underwent clinical rating scores including the Scale for the Assessment and Rating of Ataxia (SARA) to assess disease severity and received anatomical MRI scans of the whole spinal cord on a 3T scanner using a T1-weighted sequence (3-dimensional gradient-echo sequence). The long and short axis of the spinal cord were measured respectively on the right-left and anterior-posterior planes at the level of each spinal disk of the cervical and thoracic spine segments and used for the calculation an elliptical cross-sectional model.

Results: The entire spinal cord in patients with FRDA was flattened compared to controls (cervical segments p<0.001, thoracolumbar segments p<0.005, respectively; Mann-Whitney U-tests corrected for multiple comparisons). Whereas, no correlations were found with age, disease duration and the GAA allele 1, SARA was highly correlated with the entire spinal cord atrophy in patients with FRDA (Spearman’s rho = -0.80, p=0.002).

Conclusions: Our results demonstrate that the entire spinal cord is highly atrophied in FRDA and these abnormalities are associated with clinical disease severity in FRDA. Thus, spinal cord MRI might serve as a surrogate endpoint in future clinical trials.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/preliminary-findings-of-mr-imaging-of-the-entire-spinal-cord-in-friedreichs-ataxia/