Diffusion tensor imaging of the brain in Pompe disease

Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, while brain involvement in late-onset patients is not fully eluc...

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Bibliographic Details
Published in:Journal of neurology 2023-03, Vol.270 (3), p.1662-1671
Main Authors: van den Dorpel, Jan J. A., Dremmen, Marjolein H. G., van der Beek, Nadine A. M. E., Rizopoulos, Dimitris, van Doorn, Pieter A., van der Ploeg, Ans T., Muetzel, Ryan L., van den Hout, Johanna M. P.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anisotropy
Brain - diagnostic imaging
Cardiomyopathy
Child
Child & adolescent psychiatry
Child, Preschool
Diffusion Magnetic Resonance Imaging - methods
Diffusion Tensor Imaging - methods
Disease
Enzymes
Fibers
Fibroblasts
Glycogen Storage Disease Type II - diagnostic imaging
Humans
Magnetic resonance imaging
Medicine
Medicine & Public Health
Metabolic disorders
Middle Aged
Myopathy
Neuroimaging
Neurology
Neuroradiology
Neurosciences
Original Communication
Radiation
Software
Substantia alba
White Matter - diagnostic imaging
Young Adult
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Summary:Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, while brain involvement in late-onset patients is not fully elucidated. To study the underlying microstructure of white matter, we acquired structural (T1, T2, FLAIR) and diffusion tensor imaging (DTI) of the brain in 12 classic infantile patients (age 5–20 years) and 18 late-onset Pompe patients (age 11–56 years). Structural images were scored according to a rating scale for classic infantile patients. Fractional anisotropy (FA) and mean diffusivity (MD) from classic infantile patients were compared to a reference population, using a Wilcoxon signed-rank, one sample test. Effect sizes (Hedges’ G) were used to compare DTI metrics across different tracts. For late-onset patients, results were compared to (reported) tractography data on normal aging. In classic infantile patients, we found a significant lower FA and higher MD ( p  
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-022-11506-z