Quantitative susceptibility mapping in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD).

Abstract

Background The deep nuclei, brainstem, and anterior central gyrus are important sites of spinocerebellar ataxia type3/Machado–Joseph Disease (SCA3/MJD) involvement. These locations were the common iron deposition areas. We hypothesized that iron deposition changes occur in SCA3/MJD patients and are associated with disease progression. Purpose Quantitative susceptibility mapping was used to quantitatively analyze changes in iron levels in SCA3/MJD patients. Material and Methods Eighteen symptomatic SCA3/MJD patients and 18 age-matched normal controls (group 1; NC1), and 12 asymptomatic mutation carriers (pre-SCA3/MJD) and 16 age-matched normal controls (group 2; NC2) were examined by enhanced gradient echo T2*-weighted angiography. Data were processed to obtain the quantitative susceptibility mapping values. Independent sample t-tests were conducted to compare the differences in the quantitative susceptibility mapping values. Results In the red nuclei and substantia nigra, the quantitative susceptibility mapping values of the symptomatic SCA3/MJD group were significantly higher than those of NC1 ( P < 0.05). The quantitative susceptibility mapping values of the symptomatic SCA3/MJD group were higher than those of NC1 in the globus pallidus, but it was not statistically significant ( P = 0.056). No significant difference in quantitative susceptibility mapping values was found between the pre-SCA3/MJD and NC2. No significant correlation was found between the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia and the quantitative susceptibility mapping values. Conclusion The results clearly demonstrated the quantitative susceptibility mapping value increase in the globus pallidus, red nuclei, and substantia nigra of the symptomatic SCA3/MJD group, indicating iron overload in these nuclei, suggesting that iron deposition is associated with disease onset.