Deletion of 6p25.3 Is Associated with Cerebrovascular Dolichoectasia: Report of 2 Cases

Kearns, Kathryn N.; Yağmurlu, Kaan; Chen, Ching-Jen; Jane, John A.; Park, Min; Kalani, M. Yashar S.

doi:10.1159/000497148

Cited by 3 publications

(6 citation statements)

References 10 publications

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“…Microarray analysis identified a 1.5-Mb deletion of 6p25.3 covering 15 genes including forkhead box C1 (FOXC1), which has been implicated in defects in vascular morphogenesis. 67 Although the clinical manifestations of VBD are well known, the role of genetic factors in its pathogenesis remains unclear. Previous evidence reporting the occurrence of VBD in these two siblings has highlighted the potential role of genetic factors in the development of VBD.…”

Section: Genetic Factorsmentioning

confidence: 99%

“…Recently, a new genetic alteration has been found to link IADE with CSVD. Two sibling pediatric patients, who were born with a 6p25.3 deletion, presented with carotid dolichoectasia and VBD [ 67 ]. MRI of both children showed asymptomatic elongation and dilation of the vertebrobasilar system and “kissing” carotid arteries; meanwhile, axial T2-weighted MRI demonstrated enlarged perivascular spaces in the two patients.…”

Section: Mechanisms Underlying the Association Between Iade And Csvdmentioning

confidence: 99%

“…MRI of both children showed asymptomatic elongation and dilation of the vertebrobasilar system and “kissing” carotid arteries; meanwhile, axial T2-weighted MRI demonstrated enlarged perivascular spaces in the two patients. Microarray analysis identified a 1.5-Mb deletion of 6p25.3 covering 15 genes including forkhead box C1 ( FOXC1 ), which has been implicated in defects in vascular morphogenesis [ 67 ].…”

Section: Mechanisms Underlying the Association Between Iade And Csvdmentioning

confidence: 99%

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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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Section: Genetic Factorsmentioning

confidence: 99%

Section: Mechanisms Underlying the Association Between Iade And Csvdmentioning

confidence: 99%

Section: Mechanisms Underlying the Association Between Iade And Csvdmentioning

confidence: 99%

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

et al. 2020

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“…One COL4A1 mutated patient also had a hemorrhagic stroke and microhemorrhages [ 47 ]. The next most prevalent neurovascular anomaly included three cases of intracranial vascular dolichoectasia (4.8%) [ 31 , 47 ]. Other neurovascular anomalies included eighteen patients with cerebral small vessel disease (CSVD), one arteriovenous malformation (AVM), and one report of thickened small-caliber blood vessels with disrupted basement membranes [ 4 , 43 , 47 ].…”

Section: Resultsmentioning

confidence: 99%

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Muzyka,

Winterhalter,

LoPresti

et al. 2023

Heliyon

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“…It is common in adults and rare in children. In children, it may be related to the deletion of 6p25.3 in FOXC1 gene 4 . Genetic, infectious, inflammatory, immune, and degenerative factors are considered to be the causes or contribute to the formation or development of VBD 5,6 .…”

Section: Discussionmentioning

confidence: 99%

Endovascular Stent Implantation in the Treatment of Vertebrobasilar Dolichoectasia

Cao

Chen

et al. 2023

Journal of Craniofacial Surgery

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Vertebrobasilar dolichoectasia (VBD) is a rare disease in clinic, with an incidence of 0.06% and 5.8%. It is a progressive vascular disease caused by the dilatation, tortuosity, and prolongation of vertebral and basilar arteries caused by a variety of factors. VBD can lead to hemodynamic changes, ischemic stroke, compression symptoms due to vasodilation, neurological dysfunction, hydrocephalus, subarachnoid hemorrhage, and other clinical manifestations. However, because the condition of VBD is complex and changeable, the treatment of VBD is not uniform. With the development of vascular intervention, especially the development of stent technology, it may become an effective method for the treatment of VBD. Two patients with VBD were treated with endovascular stent implantation.

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Deletion of 6p25.3 Is Associated with Cerebrovascular Dolichoectasia: Report of 2 Cases

Cited by 3 publications

References 10 publications

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

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

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Endovascular Stent Implantation in the Treatment of Vertebrobasilar Dolichoectasia

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