Introduction
Conventional imaging
Conventional imaging findings | ||||
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Stroke | Increased prevalence of cerebrovascular events in FD, with predilection for females and young subjects [11] | Frequently occurring before the diagnosis, in absence of other signs and symptoms of the underlying disorder [13] | Neurological and neuroradiological findings classical and consistent with affected vascular territory [14] | Haemorrhagic stroke is rare, whereas cerebral micro-bleeding more commonly observed (11–30% of cases) [15] |
White matter hyperintensities | Observed in up to 80% of patients [16], white matter hyperintensities are the most common neuroradiological finding in FD | Non-specific distribution, with a variable periventricular, deep and/or subcortical white matter involvement [17] | ||
Vertebro-basilar diameter | Dilative arteriopathy of the vertebro-basilar system is a common, although inconstant, neuroradiological feature of FD [23] | Vessel alterations include elongation, tortuosity, ectasia and focal aneurismal dilatation of vertebral and basilar arteries [24] | Basilar artery elongation and dilatation seems to be an age-dependent phenomenon, more pronounced in FD patients [25] | The increase in arterial diameters apparently show stability over time [26] |
Pulvinar sign | Unilateral or bilateral hyperintensity of the thalamic pulvinar on unenhanced T1-weighted brain MRI [27] | Originally it was thought to be a common and pathognomonic sign of FD [28] | Is a sign present in a low proportion of patients (3% of cases), mostly observed in male patients with severe renal involvement [29] | Pulvinar sign should no longer be recognised as a neuroradiological finding characteristic of FD, due to its low incidence and specificity |
Stroke
White matter hyperintensities
Vertebro-basilar diameter
Pulvinar sign
Advanced imaging
Advanced imaging findings | ||||
Brain tissue volume | In absence of a severe cerebrovascular pathology, global normalised grey and white matter volumes are preserved in FD patients | A global reduction of the intracranial volume has been observed, suggesting the presence of an abnormal neural development [61] | Hippocampal atrophy increases over years, and does not correlate with lesion load [26] | |
Diffusion tensor imaging | A diffuse and significant microstructural white matter involvement is present in FD [63] | Elevated total brain parenchymal average diffusion constant has been observed, independent from white matter lesions [64] | Voxel-based DTI showed the presence of microstructural damage affecting also the thalamus [67] | |
Functional MRI | During motor task, FD patients showed increased activation of additional cortical regions [69] | Altered corticostriatal functional connectivity was observed, suggesting a subclinical involvement of motor circuits [68] | Functional changes involve not only the motor, but also cognitive functions, with alterations of the so-called default mode network [63] | |
Other MRI techniques | MRI spectroscopy | Magnetisation transfer | Quantitative MRI | MRI Arterial spin labelling |
Increased susceptibility values in the striato-nigral pathway of FD patients [75] | Increased cerebral flow in the white matter, with particular reference to the splenium of the corpus callosum [76] | |||
Nuclear medicine | Increased relative cerebral blood flow of the posterior and periventricular regions [35] | The altered relative cerebral blood flow seems to reverse after prolonged enzyme replacement therapy [77] | No significant global glucose metabolism changes affects the brain of FD patients [37] | Hypometabolic areas only observed in regions with infarcts or haemorrhages on MRI scans [78] |