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 R2 = 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.
Highlights
The rare lysosomal storage disorder aspartylglucosaminuria (AGU) is known to inflict a continuous deterioration in the cognitive and motor skills of the patients
SegmentedHowever, into the iron regions based statistically significant with p-value it is accumulation possible that further regions of on thethe brain of AGU patients findings exhibit iron accumulation
In the statistical analysis of the iron accumulation regions of the thalamus, we found a large difference in the group-wise means and variances, with the intensities of the patients with AGU
Summary
The rare lysosomal storage disorder aspartylglucosaminuria (AGU) is known to inflict a continuous deterioration in the cognitive and motor skills of the patients. AGU is a generalized disease affecting the whole body, including the brain. AGU is usually diagnosed by demonstrating the accumulation of glycoasparagines in the urine of the patients or by genetic diagnosis. For a more detailed elaboration of AGU as a disease, we would like to recommend two previous publications [1,2]. The first symptoms noted in early childhood include abnormally slow development of motor skills and speech. A gradual decline in cognitive and motor skills starts in childhood and speeds up after the age of 25 to 28 years, leading to severe intellectual disability, with death typically before the age of 50 years [3].
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