Neuroimaging in Fabry disease: current knowledge and future directions

Cocozza, Sirio; Russo, Camilla; Pontillo, Giuseppe; Pisani, Antonio; Brunetti, Arturo

doi:10.1007/s13244-018-0664-8

Cited by 43 publications

(42 citation statements)

References 93 publications

(104 reference statements)

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“…On MRI, white matter lesions are present in 80% of cases and can be heterogenous, ranging from small, scattered and punctuate T2-weighted hyperintense foci to bilateral diffuse, patchy and partly confluent white matter hyperintensities. An important characteristic is that the lesions in Fabry disease only present themselves in the supratentorial white matter, which was not the case in our patient 19 .…”

Section: Hiv-associated Dementia Is Associated With a Symmetrical Pecontrasting

confidence: 48%

“…There are some rare cases described in literature, in men, that had a late-onset at adult age and in which only one or two organ systems were affected. The kidneys (chronic kidney disease), and the cardiovascular system (hypertrophic cardiomyopathy, valvular anomalies, conduction disorders) were most frequently affected 19,20 . Our patient had no clinical or paraclinical evidence of a kidney or heart abnormalities.…”

Section: Hiv-associated Dementia Is Associated With a Symmetrical Pementioning

confidence: 99%

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Binswanger’s disease: case presentation and differential diagnosis

Văcăraş

Cordoș²,

Rahovan³

et al. 2020

Preprint

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Section: Hiv-associated Dementia Is Associated With a Symmetrical Pecontrasting

confidence: 48%

Section: Hiv-associated Dementia Is Associated With a Symmetrical Pementioning

confidence: 99%

Binswanger’s disease: case presentation and differential diagnosis

Văcăraş

Cordoș²,

Rahovan³

et al. 2020

Preprint

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“…In line with these clinical findings, recent advanced MRI studies have showed the presence of a deeper and complex brain involvement in FD patients, with particular reference to the motor system [4]. Indeed, an alteration of the corticostriatal pathway has been described in FD patients, and a reduced functional connectivity between the motor cortex and the striatum has been described in this condition [5].…”

Section: Introductionmentioning

confidence: 61%

Microstructural damage of the cortico-striatal and thalamo-cortical fibers in Fabry disease: a diffusion MRI tractometry study

et al. 2020

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Purpose Recent evidences have suggested the possible presence of an involvement of the extrapyramidal system in Fabry disease (FD), a rare X-linked lysosomal storage disorder. We aimed to investigate the microstructural integrity of the main tracts of the cortico-striatal-thalamo-cortical loop in FD patients. Methods Forty-seven FD patients (mean age = 42.3 ± 16.3 years, M/F = 28/21) and 49 healthy controls (mean age = 42.3 ± 13.1 years, M/F = 19/28) were enrolled in this study. Fractional anisotropy (FA), axial (AD), radial (RD), and mean diffusivity (MD) maps were computed for each subject, and connectomes were built using a standard atlas. Diffusion metrics and connectomes were then combined to carry on a diffusion MRI tractometry analysis. The main afferent and efferent pathways of the cortico-striatal-thalamo-cortical loop (namely, bundles connecting the precentral gyrus (PreCG) with the striatum and the thalamus) were evaluated. Results We found the presence of a microstructural involvement of cortico-striatal-thalamo-cortical loop in FD patients, predominantly affecting the left side. In particular, we found significant lower mean FA values of the left cortico-striatal fibers (p = 0.001), coupled to higher MD (p = 0.001) and RD (p < 0.001) values, as well as higher MD (p = 0.01) and RD (p = 0.01) values at the level of the thalamo-cortical fibers. Conclusion We confirmed the presence of an alteration of the extrapyramidal system in FD patients, in line with recent evidences suggesting the presence of brain changes as a possible reflection of the subtle motor symptoms present in this condition. Our results suggest that, along with functional changes, microstructural damage of this pathway is also present in FD patients.

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“…For this reason, future longitudinal studies are warranted to further confirm or dismiss this hypothesis. Another limitation of the present study is the absence of other specific vascular markers, such as the evaluation of the diameters of the brain’s posterior circulation, which have been reported as increased in FD patients [32]. Future studies correlating different imaging biomarkers are therefore warranted to evaluate a possible relation between these changes.…”

Section: Discussionmentioning

confidence: 98%

Optical Coherence Tomography Angiography Findings in Fabry Disease

Cennamo

Maio

Montorio

et al. 2019

JCM

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Background: Fabry disease (FD) is a X-linked recessive lysosomal storage disorder characterized by altered biodegradation of glycosphingolipids. It is a multisystem pathology, also involving ophthalmological systems that show modifications of the vessel wall due to glycosphingolipid deposits. Optical coherence tomography angiography (OCT-A) allows for an objective analysis of retinal microvasculature alterations, evaluating retinal vessel density in macular region. Methods: A total of 54 FD patients (34 females, 20 males, mean age 44.1 ± 15.6 years) and 70 controls (36 females, 34 males, mean age 42.3 ± 15.6 years) were included in this study. We evaluated vessel density in different macular areas (whole image, fovea, and parafovea) of both the superficial capillary plexus (SCP) and of the deep capillary plexus (DCP). Results: In the SCP there was a significantly lower vascular density in patients compared with controls in whole image (49.95 ± 5.17% vs. 51.99 ± 2.52%; p < 0.001), parafovea (52.01 ± 6.69% vs. 54.30 ± 2.61%; p = 0.002), and fovea (22.38 ± 9.01% vs. 29.31 ± 5.84%; p < 0.0001). In the DCP the vessel density was statistically increased in each macular area in patients compared with controls (54.82 ± 8.07% vs. 50.93 ± 5.46%; p = 0.005, 57.76 ± 7.26% vs. 53.59 ± 5.46%; p = 0.0001, and 39.75 ± 8.59% vs. 34.43 ± 8.68%; p < 0.0001 for whole image, parafovea, and fovea, respectively). Conclusion: OCT-A analysis showed that the macular vessel density was significantly reduced in the SCP and increased in the DCP in FD patients compared with controls. These findings, which might be a consequence of the alteration of vascular wall occurring in FD, support the hypothesis that the evaluation of early retinal microvascular network changes could be a useful tool in the clinical evaluation of the disease.

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Neuroimaging in Fabry disease: current knowledge and future directions

Cited by 43 publications

References 93 publications

Binswanger’s disease: case presentation and differential diagnosis

Binswanger’s disease: case presentation and differential diagnosis

Microstructural damage of the cortico-striatal and thalamo-cortical fibers in Fabry disease: a diffusion MRI tractometry study

Optical Coherence Tomography Angiography Findings in Fabry Disease

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