Background: Over the life span, the diffusion metrics in brain MRI show different, partly nonlinear changes. These age-dependent changes also seem to exhibit regional differences with respect to the brain anatomy. The age correction of a study cohort's diffusion metrics might thus require consideration of age-related factors.Methods: Diffusion tensor imaging data sets were acquired from 219 healthy participants at ages between 19 and 81 years. Fractional anisotropy (FA), mean diffusivity (MD), and axial and radial diffusivity (AD and RD, respectively) maps were analyzed by a tract of interest-based fiber tracking approach. To describe diffusion metrics as a function of the participant age, linear splines were used to perform curve fitting in 21 specific tract systems covering different functional areas and diffusion directions.Results: In the majority of tracts, an interpolation with a change of alteration rate during adult life described the diffusion properties more accurately than a linear model. Consequently, the diffusion properties remained relatively stable until a decrease (of FA) or increase (of MD, AD, and RD) started at a region-specific time point, whereas a uniform change of diffusion properties was observed only in a few tracts. Single tracts, e.g., located in the cerebellum, remained nearly unaltered throughout the ages between 19 and 81 years.Conclusions: Age corrections of diffusion properties should not be applied to all white matter regions and all age spans in the same way. Therefore, we propose three different approaches for age correction based on fiber tracking techniques, i.e., no correction for areas that do not experience age-related changes and two variants of an age correction depending on the age range of the cohort and the tracts considered.
Objective The clinical manifestation of amyotrophic lateral sclerosis (ALS) is characterized by motor neuron degeneration, whereas frontotemporal dementia (FTD) patients show alterations of behavior and cognition. Both share repeat expansions in C9orf72 as the most prevalent genetic cause. Before disease-defining symptoms onset, structural and functional changes at cortical level may emerge in C9orf72 carriers. Here, we characterized oculomotor parameters and their association to neuropsychological domains in apparently asymptomatic individuals with mutations in ALS/FTD genes. Patients and methods Forty-eight carriers of ALS genes, without any clinical symptoms underwent video-oculographic examination, including 22 subjects with C9orf72 mutation, 17 with SOD1, and 9 with other ALS associated gene mutations (n = 3 KIF5A; n = 3 FUS/FUS + TBK1; n = 1 NEK1; n = 1 SETX; n = 1 TDP43). A total of 17 subjects underwent a follow-up measurement. Data were compared to 54 age- and gender-matched healthy controls. Additionally, mutation carriers performed a neuropsychological assessment. Results In comparison to controls, the presymptomatic subjects performed significantly worse in executive oculomotor tasks such as the ability to perform correct anti-saccades. A gene mutation subgroup analysis showed that dysfunctions in C9orf72 carriers were much more pronounced than in SOD1 carriers. The anti-saccade error rate of ALS mutation carriers was associated with cognitive deficits: this correlation was increased in subjects with C9orf72 mutation, whereas SOD1 carriers showed no associations. Conclusion In C9orf72 carriers, executive eye movement dysfunctions, especially the increased anti-saccade error rate, were associated with cognitive impairment and unrelated to time. These oculomotor impairments are in support of developmental deficits in these mutations, especially in prefrontal areas.
Background: C9orf72 hexanucleotide repeat expansions are associated with widespread cerebral alterations, including white matter alterations. However, there is lack of information on changes in commissure fibres. Diffusion tensor imaging (DTI) can identify amyotrophic lateral sclerosis (ALS)-associated patterns of regional brain alterations at the group level. The objective of this study was to investigate the structural connectivity of the corpus callosum (CC) in ALS patients with C9orf72 expansions. Methods: DTI-based white matter mapping was performed by a hypothesis-guided tractwise analysis of fractional anisotropy (FA) maps for 25 ALS patients with C9orf72 expansion versus 25 matched healthy controls. Furthermore, a comparison with a patient control group of 25 sporadic ALS patients was performed. DTI-based tracts that originate from callosal sub-areas I to V were identified and correlated with clinical data. Results: The analysis of white matter integrity demonstrated regional FA reductions for tracts of the callosal areas II and III for ALS patients with C9orf72 expansions while FA reductions in sporadic ALS patients were observed only for tracts of the callosal area III; these reductions were correlated with clinical parameters. Conclusion: The tract-of-interest-based analysis showed a microstructural callosal involvement pattern in C9orf72-associated ALS that included the motor segment III together with frontal callosal connections, as an imaging signature of the C9orf72-associated overlap of motor neuron disease and frontotemporal pathology.
Background The eponymous feature of progressive supranuclear palsy (PSP) is oculomotor impairment which is one of the relevant domains in the Movement Disorder Society diagnostic criteria. Objective We aimed to investigate the value of specific video-oculographic parameters for the use as diagnostic markers in PSP. Methods An analysis of video-oculography recordings of 100 PSP patients and 49 age-matched healthy control subjects was performed. Gain of smooth pursuit eye movement and latency, gain, peak eye velocity, asymmetry of downward and upward velocities of saccades as well as rate of saccadic intrusions were analyzed. Results Vertical saccade velocity and saccadic intrusions allowed for the classification of about 70% and 56% of the patients, respectively. By combining both parameters, almost 80% of the PSP patients were covered, while vertical velocity asymmetry was observed in approximately 34%. All parameters had a specificity of above 95%. The sensitivities were lower with around 50–60% for the velocity and saccadic intrusions and only 27% for vertical asymmetry. Conclusions In accordance with oculomotor features in the current PSP diagnostic criteria, video-oculographic assessment of vertical saccade velocity and saccadic intrusions resulted in very high specificity. Asymmetry of vertical saccade velocities, in the opposite, did not prove to be useful for diagnostic purposes.
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