Characteristics of Cerebral Microbleeds in Patients with Fabry Disease

Kono, Yu; Wakabayashi, Taichi; Kobayashi, Masahisa; Ohashi, Toya; Eto, Yoshikatsu; Ida, Hiroyuki; Iguchi, Yasuyuki

doi:10.1016/j.jstrokecerebrovasdis.2016.02.019

Cited by 33 publications

(22 citation statements)

References 36 publications

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“…cortical functional compensation effort. Finally, it should be noted that in FD patients an higher incidence of microbleeds has been reported (Kono et al, 2016;Reisin et al, 2011), with a known influence on both functional and structural connectivity (Akoudad et al, 2013;Sharp et al, 2011). However, in our population T2*-GrE images were available, and no microbleeds were found, thus allowing us to discard the hypothesis of connectivity changes due to the presence of this alteration (data not shown).…”

Section: Discussionmentioning

confidence: 71%

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

Cocozza

Pontillo

Quarantelli

et al. 2018

Human Brain Mapping

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Aim of the study was to evaluate the presence of Default Mode Network (DMN) modifications in Fabry Disease (FD), and their possible correlations with structural alterations and neuropsychological scores. Thirty-two FD patients with a genetically confirmed diagnosis of classical FD (12 males, mean age 43.3 ± 12.2) were enrolled, along with 35 healthy controls (HC) of comparable age and sex (14 males, mean age 42.1 ± 14.5). Resting-State fMRI data were analyzed using a seed-based approach, with six different seeds sampling the main hubs of the DMN. Structural modifications were assessed by means of Voxel-Based Morphometry (VBM) and Tract-Based Spatial Statistics analyses. Between-group differences and correlations with neuropsychological variables were probed voxelwise over the whole brain. Possible correlations between FC modifications and global measures of microstructural alteration were also tested in FD patients with a partial correlation analysis. In the FD group, clusters of increased functional connectivity involving both supratentorial and infratentorial regions emerged, partially correlated to the widespread white matter (WM) damage found in these patients. No gray matter volume differences were found at VBM between the two groups. The connectivity between right inferior frontal gyrus and precuneus was significantly correlated with the Corsi block-tapping test results (p = .0001). Widespread DMN changes are present in FD patients that correlate with WM alterations and cognitive performance. Our results confirm the current view of a cerebral involvement in FD patients not simply associated to major cerebrovascular events, but also related to significant and diffuse microstructural and functional changes.

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Section: Discussionmentioning

confidence: 71%

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

Cocozza

Pontillo

Quarantelli

et al. 2018

Human Brain Mapping

View full text Add to dashboard Cite

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“…MR imaging findings include white matter hyperintensities and CMBs. The prevalence of microbleeds in Fabry disease ranges between 15% and 30% (our own cohort of 34 patients with a median age of 44 years [98,99]) and appears to be higher in male patients and in patients with renal involvement.…”

Section: Fabry Diseasementioning

confidence: 88%

Cerebral Microbleeds: Imaging and Clinical Significance

Haller¹,

Vernooij²,

Kuijer³

et al. 2018

Radiology

239

161

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Cerebral microbleeds (CMBs), also referred to as microhemorrhages, appear on magnetic resonance (MR) images as hypointense foci notably at T2*-weighted or susceptibility-weighted (SW) imaging. CMBs are detected with increasing frequency because of the more widespread use of high magnetic field strength and of newer dedicated MR imaging techniques such as three-dimensional gradient-echo T2*-weighted and SW imaging. The imaging appearance of CMBs is mainly because of changes in local magnetic susceptibility and reflects the pathologic iron accumulation, most often in perivascular macrophages, because of vasculopathy. CMBs are depicted with a true-positive rate of 48%-89% at 1.5 T or 3.0 T and T2*-weighted or SW imaging across a wide range of diseases. False-positive "mimics" of CMBs occur at a rate of 11%-24% and include microdissections, microaneurysms, and microcalcifications; the latter can be differentiated by using phase images. Compared with postmortem histopathologic analysis, at least half of CMBs are missed with premortem clinical MR imaging. In general, CMB detection rate increases with field strength, with the use of three-dimensional sequences, and with postprocessing methods that use local perturbations of the MR phase to enhance T2* contrast. Because of the more widespread availability of high-field-strength MR imaging systems and growing use of SW imaging, CMBs are increasingly recognized in normal aging, and are even more common in various disorders such as Alzheimer dementia, cerebral amyloid angiopathy, stroke, and trauma. Rare causes include endocarditis, cerebral autosomal dominant arteriopathy with subcortical infarcts, leukoencephalopathy, and radiation therapy. The presence of CMBs in patients with stroke is increasingly recognized as a marker of worse outcome. Finally, guidelines for adjustment of anticoagulant therapy in patients with CMBs are under development. RSNA, 2018.

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“…68 The indication is probably stronger than the general recommendations in the ESC guidelines, 79 although the risk for cerebral microbleeds must be recognized. 80 Because both small and large cerebral vessels are involved, effective antiplatelet agents are highly recommended to prevent stroke in enzyme-naïve patients and in those undergoing ERT for primary and secondary stroke prevention. 81 Implantation of a pacemaker is necessary in cases with symptomatic and severe bradycardia.…”

Section: Initiation Of Ertmentioning

confidence: 99%

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Schiffmann¹,

Hughes

Linthorst

et al. 2017

Kidney International

142

110

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Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and management of FD, and included enzyme replacement therapy and nonspecific standard-of-care therapy for the various manifestations of FD. Despite marked advances in patient care and improved overall outlook, there is a need to better understand the pathogenesis of this glycosphingolipidosis and to determine the appropriate age to initiate therapy in all types of patients. The need to develop more effective specific therapies was also emphasized.

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Characteristics of Cerebral Microbleeds in Patients with Fabry Disease

Cited by 33 publications

References 36 publications

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

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

Cerebral Microbleeds: Imaging and Clinical Significance

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

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