Default mode network modifications in <scp>F</scp>abry disease: A resting‐state fMRI study with structural correlations

Cocozza, Sirio; Pontillo, Giuseppe; Quarantelli, Mario; Saccà, Francesco; Riccio, Eleonora; Costabile, Teresa; Olivo, Gaia; Morra, Brescia; Pisani, Antonio; Brunetti, Arturo; Tedeschi, Enrico

doi:10.1002/hbm.23949

Cited by 26 publications

(29 citation statements)

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“…Indeed, the above-mentioned decreased mean diffusivity values were also coupled to a reduced fractional anisotropy throughout the brain of FD patients [ 65 ]. Similarly, a large microstructural WM involvement was recently confirmed by a combined TBSS-functional MRI (fMRI) study, in which extensive areas of reduced fractional anisotropy were found in FD patients, despite the low incidence and load of WMH [ 63 ]. These areas included different supratentorial and infratentorial WM regions, with a relative sparing of only few brain regions [ 63 ], and were correlated to functional cortical changes, denoting the complexity of physiopathological mechanisms of cerebral involvement in FD [ 63 ] (Fig.…”

Section: Advanced Imagingmentioning

confidence: 85%

“…Possible regional differences in GM volume have also been investigated in FD patients, mostly by means of voxel-based morphometry (VBM) analysis. Different VBM studies have been conducted in FD patients in recent years, mostly showing that no differences in terms of regional GM density were present in FD patients compared to healthy controls [ 63 , 65 , 68 , 80 ].…”

Section: Advanced Imagingmentioning

confidence: 99%

“…

Fig. 4 Selected coronal ( upper row ) and axial ( lower row ) slices showing in red-yellow the presence of widespread regions of reduced fractional anisotropy in Fabry disease patients compared to healthy controls (results of a tract-based spatial statistics analysis reported in [ 63 ]) …”

Section: Advanced Imagingmentioning

confidence: 99%

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Neuroimaging in Fabry disease: current knowledge and future directions

et al. 2018

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Fabry disease (FD) is a rare X-linked disorder characterised by abnormal progressive lysosomal deposition of globotriaosylceramide in a large variety of cell types. The central nervous system (CNS) is often involved in FD, with a wide spectrum of manifestations ranging from mild symptoms to more severe courses related to acute cerebrovascular events. In this review we present the current knowledge on brain imaging for this condition, with a comprehensive and critical description of its most common neuroradiological imaging findings. Moreover, we report results from studies that investigated brain physiopathology underlying this disorder by using advanced imaging techniques, suggesting possible future directions to further explore CNS involvement in FD patients.Teaching Points • Conventional neuroradiological findings in FD are aspecific. • White matter hyperintensities represent the more consistent brain imaging feature of FD • Abnormalities of the vasculature wall of posterior circulation are also consistent features. • The pulvinar sign is not reliable as a finding pathognomonic for FD. • Advanced imaging techniques have increased our knowledge about brain involvement in FD.

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Section: Advanced Imagingmentioning

confidence: 85%

Section: Advanced Imagingmentioning

confidence: 99%

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Neuroimaging in Fabry disease: current knowledge and future directions

et al. 2018

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“…Increased DMN integrity and activation in the anterior module is associated with depressive rumination and anxiety [65] [66]. Other somatic illnesses that result in altered DMN function include obesity [67], sleep apnea [68], respiratory disorders [69], gastrointestinal disorders [70], cardiac/vascular disorders [71], and others [72]. In our perspective, the abnormal DMN state of these disorders can be explained by the altered non-neural processes of the body which then influence the brain.…”

Section: The Default Mode Networkmentioning

confidence: 99%

From Biological Rhythms to the Default Mode Network: What Lies beneath the Tip of the Iceberg of Mind?

Jerath¹,

Beveridge²

2019

WJNS

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Our conscious day-today self is often described as the "tip of the iceberg" of a much greater cognitive system. The edge of the water divides the phenomenal self from the sub/unconscious underlying it. Similar to an iceberg, the unconscious activity below the water vastly outweighs the conscious activity above it. What exactly lies beneath the surface of this murky water is a tantalizing topic of research and theory. The current research predominantly focuses on the physiology of the brain and the default mode network has been identified as an intrinsic mode of functioning. It is well known that autonomic nervous system sympathovagal balance orchestrated by the central autonomic network is strongly associated with modulation of cardiac, respiratory rate and other visceral physiological activity. In this article, we use existing research and a novel theory to tie together the default mode network, the autonomic nervous system, and non-neural physiology to describe a hypothesis on a greater biological system from which intrinsic brain activity may be founded. This hypothesis is that intrinsic brain activity and connectivities are significantly founded on activity of the body. We review how cardiorespiratory and other rhythms and electrical activity of the body may modulate and even underlie fundamental activity of the human brain and ultimately the mind. A more holistic biological system that could interface the brain and body via mechanisms such as neurovascular coupling would more accurately describe the nature of neural systems. Greater knowledge on the association and interface of brain and body via isomorphic physiologic counterparts to mind may carry profound implications in understanding intrinsic activity of the brain, consciousness, mind, and mental illness.

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“…Often, those glycolipid deposits lead to alterations in cerebral vessels and the formation of microstructural damage (i.e., microbleeds) in different brain regions (Tagliavini et al, 1982 ; Reisin et al, 2011 ; Paavilainen et al, 2013 ; Kono et al, 2016 ). In line with these pathologies, different forms of cognitive deficits have been reported in FD patients, spanning from higher prevalence of depression and anxiety to impairment of information processing and attention (Schermuly et al, 2011 ; Bolsover et al, 2014 ; Sigmundsdottir et al, 2014 ), as well as impaired long-term verbal memory (Cocozza et al, 2018 ). These are reflected to some extent in a transgenic FD mouse model which shows increased anxiety-like behavior (Hofmann et al, 2017 ).…”

Section: Introductionmentioning

confidence: 99%

Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model

Kummer

Kalpachidou

Mitrić

et al. 2018

Front. Mol. Neurosci.

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Fabry disease is an X-chromosome linked hereditary disease that is caused by loss of function mutations in the α-galactosidase A (α-Gal A) gene, resulting in defective glycolipid degradation and subsequent accumulation of globotriaosylceramide (Gb3) in different tissues, including vascular endothelial cells and neurons in the peripheral and central nervous system. We recently reported a differential gene expression profile of α-Gal A(−/0) mouse dorsal root ganglia, an established animal model of Fabry disease, thereby providing new gene targets that might underlie the neuropathic pain related symptoms. To investigate the cognitive symptoms experienced by Fabry patients, we performed one-color based hybridization microarray expression profiling of prefrontal cortex samples from adult α-Gal A(−/0) mice and age-matched wildtype controls, followed by protein-protein interaction and pathway analyses for the differentially regulated mRNAs. We found that from a total of 381 differentially expressed genes, 135 genes were significantly upregulated, whereas 246 genes were significantly downregulated between α-Gal A(−/0) mice and wildtype controls. Enrichment analysis for downregulated genes revealed mainly immune related pathways, including immune/defense responses, regulation of cytokine production, as well as signaling and transport regulation pathways. Further analysis of the regulated genes revealed a large number of genes involved in neurodegeneration. The current analysis for the first time presents a differential gene expression profile of central nervous system tissue from α-Gal A(−/0) mice, thereby providing novel knowledge on the deregulation and a possible contribution of gene expression to Fabry disease related brain pathologies.

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Default mode network modifications in Fabry disease: A resting‐state fMRI study with structural correlations

Cited by 26 publications

References 58 publications

Neuroimaging in Fabry disease: current knowledge and future directions

Neuroimaging in Fabry disease: current knowledge and future directions

From Biological Rhythms to the Default Mode Network: What Lies beneath the Tip of the Iceberg of Mind?

Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model

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