Dataset Information

White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.

ABSTRACT:

Objective

Aspartylglucosaminuria is an inherited, lysosomal storage disease causing progressive decline in cognitive and motor functions. The aim of this study was to evaluate volumes of subcortical gray matter structures and white matter microstructure in aspartylglucosaminuria in adolescence in a longitudinal study for the first time.

Methods

A boy with aspartylglucosaminuria and his healthy twin brother were imaged twice with a 3.0 T MRI scanner at the ages of 10 and 15 years. Subcortical gray matter structure volumes were measured using an atlas-based automatic method, and diffusion tensor imaging was used to evaluate the white matter microstructure of the corpus callosum and the thalamocortical pulvinar tracts.

Results

The subcortical gray matter structures were smaller at onset and diminished at follow-up in the affected twin, with the exception of the amygdala which was larger and remained the size. The largest difference in volume between the twins was found in the thalami. The total gray and white matter volumes decreased in the affected twin. In diffusion tensor imaging analysis, the fractional anisotropy was decreased at onset in the affected twin compared to the healthy brother in the evaluated tracts. The axial, radial and mean diffusivity values were increased in the affected twin. The difference between the twins increased slightly at follow-up.

Interpretation

The findings suggest that volumetric measurements and diffusion tensor imaging based microstructural analysis may be useful modalities for monitoring disease progression and response to emerging treatment in aspartylglucosaminuria, but further studies with more subjects are necessary to confirm the results.

SUBMITTER: Anna T

PROVIDER: S-EPMC5609534 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Publications

White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.

Anna Tokola T Nina Brandstack B Antti Hakkarainen H Eero Salli S Laura Åberg Å Taina Autti A

JIMD reports 20170210

<h4>Objective</h4>Aspartylglucosaminuria is an inherited, lysosomal storage disease causing progressive decline in cognitive and motor functions. The aim of this study was to evaluate volumes of subcortical gray matter structures and white matter microstructure in aspartylglucosaminuria in adolescence in a longitudinal study for the first time.<h4>Methods</h4>A boy with aspartylglucosaminuria and his healthy twin brother were imaged twice with a 3.0 T MRI scanner at the ages of 10 and 15 years. ...[more]

PMID: 28185224

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Project description:BackgroundAutism spectrum disorder (ASD) is a complex neurodevelopmental condition. Understanding the brain's microstructure and its relationship to clinical characteristics is important to advance our understanding of the neural supports underlying ASD. In the current work, we implemented Gray-Matter Based Spatial Statistics (GBSS) to examine and characterize cortical microstructure and assess differences between typically developing (TD) and autistic males.MethodsA multi-shell diffusion MRI (dMRI) protocol was acquired from 83 TD and 70 autistic males (5-to-21-years) and fit to the DTI and NODDI models. GBSS was performed for voxelwise analysis of cortical gray matter (GM). General linear models were used to investigate group differences, while age-by-group interactions assessed age-related differences between groups. Within the ASD group, relationships between cortical microstructure and measures of autistic symptoms were investigated.ResultsAll dMRI measures were significantly associated with age across the GM skeleton. Group differences and age-by-group interactions are reported. Group-wise increases in neurite density in autistic individuals were observed across frontal, temporal, and occipital regions of the right hemisphere. Significant age-by-group interactions of neurite density were observed within the middle frontal gyrus, precentral gyrus, and frontal pole. Negative relationships between neurite dispersion and the ADOS-2 Calibrated Severity Scores (CSS) were observed within the ASD group.DiscussionFindings demonstrate group and age-related differences between groups in neurite density in ASD across right-hemisphere brain regions supporting cognitive processes. Results provide evidence of altered neurodevelopmental processes affecting GM microstructure in autistic males with implications for the role of cortical microstructure in the level of autistic symptoms.ConclusionUsing dMRI and GBSS, our findings provide new insights into group and age-related differences of the GM microstructure in autistic males. Defining where and when these cortical GM differences arise will contribute to our understanding of brain-behavior relationships of ASD and may aid in the development and monitoring of targeted and individualized interventions.

Dataset Information

White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.

Objective

Methods

Results

Interpretation

Publications

White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.

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