Diffusion tensor imaging (DTI) could yield useful information in patients with Pompe disease (PD), according to a study recently published in the Journal of Neurology.

“This study indicates that DTI holds promise and deserves further study as a potential parameter to monitor the effect of emerging treatments targeting the brain,” the authors wrote.

The cross-sectional study included 30 patients previously diagnosed with PD, of which 12 had classic infantile PD and 18 had late-onset PD. The infantile PD participants were aged 5 to 20 years, while the late-onset PD patients were aged between 10.5 and 55.5 years old and had a mean disease duration of 18.7 years.

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All patients with the infantile PD, as well as all symptomatic with the late-onset form, received enzyme replacement therapy with a median duration of 7.1 and 10.2 years, respectively. 

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Patients with classic infantile PD had lower fractional anisotropy on structural images while exhibiting a higher mean diffusivity when compared to the reference population. The researchers further determined that large association fibers were the most affected. Patients who also had a structural MRI with greater white matter abnormalities showcased the largest deviations from the control population. 

Moreover, both the fractional anisotropy and mean diffusivity of white matter association fibers in the late-onset PD participants were comparable among younger and older individuals. 

“We conclude that, while no deviations from typical neurodevelopment were found in late-onset patients, classic infantile Pompe patients showed quantifiable, substantially altered white matter microstructure, which corresponded with disease stage on structural MRI,” the study explained. 

Although DTI might yield some benefits above the ones offered by a magnetic resonance imaging study, further research regarding this matter is needed. The authors noted that the rather small sample size and absence of an age-matched control group represent important limitations of this study.


Van den Dorpel J, Dremmen M, van der Beek N, et al. Diffusion tensor imaging of the brain in Pompe disease. J Neurol. Published online December 8, 2022. doi:10.1007/s00415-022-11506-z