Whole-Brain Connectivity in a Large Study of Huntington's Disease Gene Mutation Carriers and Healthy Controls

Espinoza, Flor A.; Turner, Jessica A.; Vergara, Victor M.; Miller, Robyn L.; Mennigen, Eva; Liu, Jingyu; Misiura, Maria; Ciarochi, Jennifer; Johnson, Hans J.; Long, Jeffrey D.; Bockholt, H. Jeremy; Magnotta, Vincent A.; Paulsen, Jane S.; Calhoun, Vince D.

doi:10.1089/brain.2017.0538

Cited by 42 publications

(29 citation statements)

References 63 publications

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“…In addition, the volumetric analysis identified overlapping significant decreases in these same areas; however, it also showed a significant decrease in the lateral, medial and inferior orbitofrontal cortex (bilaterally) as has been reported previously in structural and diffusion studies (Matsui et al, ; Nopoulos et al, ). Moreover, our structural results are consistent with pronounced decrease of functional markers in the frontoparietal and temporo‐occipital cortex in HD (Espinoza et al, ; Feigin et al, ; Kuwert et al, ; Poudel, Stout, et al, ; Wolf et al, ).…”

Section: Discussionsupporting

confidence: 89%

Longitudinal atrophy characterization of cortical and subcortical gray matter in Huntington’s disease patients

Ramirez-García

Gálvez

Dı́az

et al. 2019

Eur J of Neuroscience

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Huntington's disease (HD) is an inherited neurodegenerative disease with clinical manifestations that involve motor, cognitive and psychiatric deficits. Cross-sectional magnetic resonance imaging (MRI) studies have described the main cortical and subcortical macrostructural atrophy of HD. However, longitudinal studies characterizing progressive atrophy are lacking. This study aimed to describe the cortical and subcortical gray matter atrophy using complementary volumetric and surface-based MRI analyses in a cohort of seventeen early HD patients in a cross-sectional and longitudinal analysis and to correlate the longitudinal volumetric atrophy with the functional decline using several clinical measures. A group of seventeen healthy individuals was included as controls. After obtaining structural MRIs, volumetric analyses were performed in 36 cortical and 7 subcortical regions of interest per hemisphere and surface-based analyses were performed in the whole cortex, caudate, putamen and thalamus. Cross-sectional cortical surface-based and volumetric analyses showed significant decreases in frontoparietal and temporo-occipital cortices, while subcortical volumetric analysis showed significant decreases in all subcortical structures except the hippocampus. The longitudinal surface-based analysis showed widespread cortical thinning with volumetric decreases in the superior frontal lobe, while a subcortical volumetric decrease occurred in the caudate, putamen and thalamus with shape deformation on the anterior, medial and dorsal side. Functional capacity and 1828 | RAMIREZ-GARCIA Et Al. SUPPORTING INFORMATIONAdditional supporting information may be found online in the Supporting Information section.

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Section: Discussionsupporting

confidence: 89%

Longitudinal atrophy characterization of cortical and subcortical gray matter in Huntington’s disease patients

Ramirez-García

Gálvez

Dı́az

et al. 2019

Eur J of Neuroscience

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“…Correlations between functional connectivity and disease burden confirmed the involvement of VIS and cortical‐cerebellar motor networks in the whole HD spectrum (Espinoza et al, ; Koenig et al, ; Wolf, Sambataro, Vasic, Baldas, et al, ; Wolf et al, ).…”

Section: Resultsmentioning

confidence: 79%

“…However, two different studies, investigating long range coupling activity between functional networks in pre‐HD, showed reduced connectivity between salience network and several networks. Espinoza et al () reported reduced connectivity between insula and subcortical structures related with increasing CAG repeat length. Similarly, Mason and associates (2018) revealed that in pre‐HD participants the majority of the significant hypoconnectivity connections included the salience network.…”

Section: Resultsmentioning

confidence: 99%

“…From the full articles of the eligible studies, the following variables were recorded: population characteristics (sample size, age, gender, education years, mean age disease, unified Huntington's disease rating scale [UHDRS], and mini-mental state examination scores), resting state networks investigated, methods for network analysis, acquisition characteristics (scanner field strength, acquisition time), and correlations with disease burden or CAG repeats and cognitive/motor outcomes. Studies reporting overlapping samples or a subset of rs-fMRI data (Espinoza et al, 2018;Harrington et al, 2015;Koenig et al, 2014;Wolf, Sambataro, Vasic, Baldas, et al, 2014;Wolf, Sambataro, Vasic, Depping, et al, 2014;Wolf et al, 2015) were included.…”

Section: Data Extractionmentioning

confidence: 99%

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Aberrant brain network connectivity in presymptomatic and manifest Huntington's disease: A systematic review

Pini

Jacquemot

Cagnin

et al. 2019

Human Brain Mapping

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Resting‐state functional magnetic resonance imaging (rs‐fMRI) has the potential to shed light on the pathophysiological mechanisms of Huntington's disease (HD), paving the way to new therapeutic interventions. A systematic literature review was conducted in three online databases according to PRISMA guidelines, using keywords for HD, functional connectivity, and rs‐fMRI. We included studies investigating connectivity in presymptomatic (pre‐HD) and manifest HD gene carriers compared to healthy controls, implementing seed‐based connectivity, independent component analysis, regional property, and graph analysis approaches. Visual network showed reduced connectivity in manifest HD, while network/areas underpinning motor functions were consistently altered in both manifest HD and pre‐HD, showing disease stage‐dependent changes. Cognitive networks underlying executive and attentional functions showed divergent anterior–posterior alterations, possibly reflecting compensatory mechanisms. The involvement of these networks in pre‐HD is still unclear. In conclusion, aberrant connectivity of the sensory‐motor network is observed in the early stage of HD while, as pathology spreads, other networks might be affected, such as the visual and executive/attentional networks. Moreover, sensory‐motor and executive networks exhibit hyper‐ and hypo‐connectivity patterns following different spatiotemporal trajectories. These findings could potentially help to implement future huntingtin‐lowering interventions.

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“…The results showed decreasing connectivity with increasing CAG repeat length in the putamen network, and between the putamen and insular cortex. CAG repeat length was also positively associated with functional connectivity between calcarine and middle frontal gyri networks but negatively associated with connectivity between other visual networks, indicating a complex genetic effect on posterior connectivity (Espinoza et al, ).…”

Section: Introductionmentioning

confidence: 99%

Dynamic functional network connectivity in Huntington's disease and its associations with motor and cognitive measures

Espinoza

Liu

Ciarochi

et al. 2019

Human Brain Mapping

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Dynamic functional network connectivity (dFNC) is an expansion of traditional, static FNC that measures connectivity variation among brain networks throughout scan duration. We used a large resting‐state fMRI (rs‐fMRI) sample from the PREDICT‐HD study (N = 183 Huntington disease gene mutation carriers [HDgmc] and N = 78 healthy control [HC] participants) to examine whole‐brain dFNC and its associations with CAG repeat length as well as the product of scaled CAG length and age, a variable representing disease burden. We also tested for relationships between functional connectivity and motor and cognitive measurements. Group independent component analysis was applied to rs‐fMRI data to obtain whole‐brain resting state networks. FNC was defined as the correlation between RSN time‐courses. Dynamic FNC behavior was captured using a sliding time window approach, and FNC results from each window were assigned to four clusters representing FNC states, using a k‐means clustering algorithm. HDgmc individuals spent significantly more time in State‐1 (the state with the weakest FNC pattern) compared to HC. However, overall HC individuals showed more FNC dynamism than HDgmc. Significant associations between FNC states and genetic and clinical variables were also identified. In FNC State‐4 (the one that most resembled static FNC), HDgmc exhibited significantly decreased connectivity between the putamen and medial prefrontal cortex compared to HC, and this was significantly associated with cognitive performance. In FNC State‐1, disease burden in HDgmc participants was significantly associated with connectivity between the postcentral gyrus and posterior cingulate cortex, as well as between the inferior occipital gyrus and posterior parietal cortex.

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Whole-Brain Connectivity in a Large Study of Huntington's Disease Gene Mutation Carriers and Healthy Controls

Cited by 42 publications

References 63 publications

Longitudinal atrophy characterization of cortical and subcortical gray matter in Huntington’s disease patients

Longitudinal atrophy characterization of cortical and subcortical gray matter in Huntington’s disease patients

Aberrant brain network connectivity in presymptomatic and manifest Huntington's disease: A systematic review

Dynamic functional network connectivity in Huntington's disease and its associations with motor and cognitive measures

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