Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria

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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 , vol. 10 , no. 10 , 677 . https://doi.org/10.3390/brainsci10100677

Title: Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria
Author: Sairanen, Viljami; Tokola, Anna; Tikkanen, Ritva; Laine, Minna; Autti, Taina
Contributor: University of Helsinki, HUS Medical Imaging Center
University of Helsinki, HUS Medical Imaging Center
University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Medical Imaging Center
Date: 2020-10
Language: eng
Number of pages: 10
Belongs to series: Brain Sciences
ISSN: 2076-3425
URI: http://hdl.handle.net/10138/321958
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.
Subject: aspartylglucosaminuria
aspartylglucosaminidase
magnetic resonance imaging
susceptibility-weighted imaging
medical image analysis
gene therapy
pharmacological chaperone mediated therapy
LYSOSOMAL STORAGE
CLINICAL-APPLICATIONS
THERAPY
3112 Neurosciences
3124 Neurology and psychiatry
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