Journal article

Publication year: 2020

Journal: Brain Sciences

Volume number: 10

Issue number: 10

eISSN: 2076-3425

Open access status: Gold

DOI Link: https://doi.org/10.3390/brainsci10100677

Publisher: MDPI

Abstract: 
Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder causing developmental delay, intellectual disability, and eventual death. A distinct feature in AGU is iron accumulation within the thalamus. Our aim is to demonstrate that susceptibility-weighted images (SWI) could be used as an MRI biomarker to evaluate the response within the AGU population to newly evolving treatments. SWI from 16 patients with AGU and 16 age-matched controls were used in the analysis. Thalamic volume with an iron accumulation was identified using a permutation test. Group differences were investigated for both the complete thalamus and the iron accumulation regions. Group-wise age correlation within these volumes were assessed with analysis of variance and multivariate regression. We found a statistically significant and large difference (p-value = 0.01, Cohen's D = 0.97) for the whole thalamus comparison and an even greater difference in the iron accumulation regions (p-value < 0.01, Cohen's D = 3.52). Furthermore, we found strong evidence for iron accumulation as a linear function of age with R-2 = 0.65 only for AGU. The statistical analysis of SWI provides tools for assessing the degree of iron accumulation. This method could be used to study the response to treatments, in that a successful treatment would be expected to result in a decline in iron accumulation.

Harvard Citation style: Sairanen, V., Tokola, A., Tikkanen, R., Laine, M. and Autti, T. (2020) Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria, Brain Sciences, 10(10), Article 677. https://doi.org/10.3390/brainsci10100677

APA Citation style: Sairanen, V., Tokola, A., Tikkanen, R., Laine, M., & Autti, T. (2020). Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria. Brain Sciences. 10(10), Article 677. https://doi.org/10.3390/brainsci10100677