Basilar Artery Changes in Fabry Disease

Manara, Renzo; Carlier, Robert; Righetto, S.; Citton, Valentina; Locatelli, Giuseppe; Colas, F.; Ermani, Mario; Germain, Dominique P.; Burlina, Alessandro P.

doi:10.3174/ajnr.a5069

Cited by 41 publications

(34 citation statements)

References 25 publications

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“…The dilative arteriopathy of the vertebro-basilar system is another common, although inconstant, neuroradiological feature of FD, being documented in different previous reports [ 23 – 25 , 47 , 48 ]. Alterations of the posterior circulation system include elongation, tortuosity, diffuse ectasia and/or focal aneurismal dilatation of vertebral and basilar arteries, routinely detected with the use of a time-of-flight (TOF) MRI angiography (Fig.…”

Section: Conventional Imagingmentioning

confidence: 91%

“…Even if the exact prevalence of this finding in the normal population is still unknown, it has been recently purposed that basilar artery elongation and dilatation could be an age-dependent phenomenon present in both healthy controls and FD subjects, but more evident in the second group [ 25 ]. However, this increase in arterial diameters apparently shows stability over time, with no significant changes after 8-year-long follow-up [ 26 ].…”

Section: Conventional Imagingmentioning

confidence: 99%

“…The mechanism underlying such abnormal vessel dilatation is still largely unknown. The most reliable hypothesis is that the primary Gb3 accumulation within vessels’ smooth muscle cells could determine an alteration in the nitric oxide pathway, leading to a progressive media layer dysfunction with subsequent elongation/ectasia [ 25 , 31 , 35 ], as reported in other storage disorders like the late-onset Pompe disease [ 53 , 54 ].…”

Section: Conventional 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: Conventional Imagingmentioning

confidence: 91%

Section: Conventional Imagingmentioning

confidence: 99%

Section: Conventional Imagingmentioning

confidence: 99%

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Neuroimaging in Fabry disease: current knowledge and future directions

et al. 2018

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“…Currently, it is thought that genetic factors are involved in the pathogenesis of IADE and CSVD. In the literature, the cooccurrence of VBD and single-gene inherited diseases has been reported, such as elastofibroblastic dysplasia type IV, 51 neurofibroma type 1, 52 Fabry's disease, 53 Marfan's syndrome, 54 Pompe's disease, 55 autosomal dominant polycystic kidney disease, 56 and vascular tortuosity syndrome. 57 CSVD represents a heterogeneous group of disorders leading to stroke and cognitive impairment.…”

Section: Genetic Factorsmentioning

confidence: 99%

Association between Intracranial Arterial Dolichoectasia and Cerebral Small Vessel Disease and Its Underlying Mechanisms

et al. 2020

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Intracranial arterial dolichoectasia (IADE), also known as dilatative arteriopathy of the brain vessels, refers to an increase in the length and diameter of at least one intracranial artery, and accounts for approximately 12% of all patients with stroke. However, the association of IADE with stroke is usually unclear. Cerebral small vessel disease (CSVD) is characterized by pathological changes in the small vessels. Clinically, patients with CSVD can be asymptomatic or present with stroke or cognitive decline. In the past 20 years, a series of studies have strongly promoted an understanding of the association between IADE and CSVD from clinical and pathological perspectives. It has been proposed that IADE and CSVD may be attributed to abnormal vascular remodeling driven by an abnormal matrix metalloproteinase/tissue inhibitor of metalloproteinase pathway. Also, IADErelated hemodynamic changes may result in initiation or progression of CSVD. Additionally, genetic factors are implicated in the pathogenesis of IADE and CSVD. Patients with Fabry’s disease and late-onset Pompe’s disease are prone to developing concomitant IADE and CSVD, and patients with collagen IV alpha 1 or 2 gene (<i>COL4A1/COL4A2</i>) and forkhead box C1 (<i>FOXC1</i>) variants present with IADE and CSVD. Race, strain, familial status, and vascular risk factors may be involved in the pathogenesis of IADE and CSVD. As well, experiments in mice have pointed to genetic strain as a predisposing factor for IADE and CSVD. However, there have been few direct genetic studies aimed towards determining the association between IADE and CSVD. In the future, more clinical and basic research studies are needed to elucidate the causal relationship between IADE and CSVD and the related molecular and genetic mechanisms.

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“…3 Most prominent manifestations include cerebrovascular events, such as transient ischemic attacks and strokes, chronic cerebral vasculopathy, and vessel ectasia, especially in the posterior circulation. [4][5][6][7] Such clinical manifestations translate, on brain MR imaging, in the presence of white matter hyperintensities 3 and increased basilar artery diameter, 8,9 both nonspecific for FD. 10,11 The pulvinar sign (PS), defined as the exclusive involvement of the lateral pulvinar with symmetric hyperintensity on unenhanced T1-weighted brain MR imaging, has long been considered a common neuroradiologic sign of FD.…”

mentioning

confidence: 99%