Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study

Ulrika Roine, A.M. Tokola, Taina Autti, Timo Roine

Tutkimustuotos: LehtiartikkeliArticleScientificvertaisarvioitu

31 Lataukset (Pure)


BACKGROUND AND PURPOSE: We investigated global and local properties of the structural brain connectivity networks in aspartylglucosaminuria, an autosomal recessive and progressive neurodegenerative lysosomal storage disease. Brain connectivity in aspartylglucosaminuria has not been investigated before, but previous structural MR imaging studies have shown brain atrophy, delayed myelination, and decreased thalamic and increased periventricular WM T2 signal intensity.

MATERIALS AND METHODS: We acquired diffusion MR imaging and T1-weighted data from 12 patients with aspartylglucosaminuria (mean age, 23 [SD, 8] years; 5 men), and 30 healthy controls (mean age, 25 [SD, 10] years; 13 men). We performed whole-brain constrained spherical deconvolution tractography, which enables the reconstruction of neural tracts through regions with complex fiber configurations, and used graph-theoretical analysis to investigate the structural brain connectivity networks.

RESULTS: The integration of the networks was decreased, as demonstrated by a decreased normalized global efficiency and an increased normalized characteristic path length. In addition, the average strength of the networks was decreased. In the local analyses, we found decreased strength in 11 nodes, including, for example, the right thalamus, right putamen, and, bilaterally, several occipital and temporal regions.

CONCLUSIONS: We found global and local structural connectivity alterations in aspartylglucosaminuria. Biomarkers related to the treatment efficacy are needed, and brain network properties may provide the means for long term follow-up.
DOI - pysyväislinkit
TilaJulkaistu - tammik. 2023
OKM-julkaisutyyppiA1 Julkaistu artikkeli, soviteltu


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