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

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dc.contributor.author Sairanen, Viljami
dc.contributor.author Tokola, Anna
dc.contributor.author Tikkanen, Ritva
dc.contributor.author Laine, Minna
dc.contributor.author Autti, Taina
dc.date.accessioned 2020-10-13T13:24:11Z
dc.date.available 2020-10-13T13:24:11Z
dc.date.issued 2020-09-27
dc.identifier.citation Sairanen, V.; Tokola, A.; Tikkanen, R.; Laine, M.; Autti, T. Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria. Brain Sci. 2020, 10, 677.
dc.identifier.uri http://hdl.handle.net/10138/320238
dc.description.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 (<i>p</i>-value = 0.01, Cohen&rsquo;s D = 0.97) for the whole thalamus comparison and an even greater difference in the iron accumulation regions (<i>p</i>-value &lt; 0.01, Cohen&rsquo;s D = 3.52). Furthermore, we found strong evidence for iron accumulation as a linear function of age with R<sup>2</sup> = 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.
dc.publisher Multidisciplinary Digital Publishing Institute
dc.title Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria
dc.date.updated 2020-10-13T13:24:11Z
dc.type.uri http://purl.org/eprint/entityType/JournalArticle
dc.type.uri http://purl.org/eprint/entityType/Expression
dc.type.uri http://purl.org/eprint/entityType/Expression

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