Neurovascular manifestations of connective-tissue diseases: A review

Kim, Sarasa T.; Brinjikji, Waleed; Lanzino, Giuseppe; Kallmes, David F.

doi:10.1177/1591019916659262

Cited by 75 publications

(57 citation statements)

References 147 publications

(186 reference statements)

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“…35 It is well known that individuals with genetic defects of collagen production (e.g., Ehlers-Danlos syndrome type IV) or those who smoke cigarettes are at increased risk for the development of aneurysms. 40,52 Sites of aneurysm formation are generally localized to areas of vessel bifurcation curvatures, and aneurysms are thought to be due to intimal injury secondary to altered laminar blood flow in these areas. 22 Blood flow exerts pressure and wall shear stress (WSS) on endothelial cells lining vessel lumens.…”

Section: Vascular Remodeling In Iasmentioning

confidence: 99%

Role of matrix metalloproteinases in the pathogenesis of intracranial aneurysms

Zhang

Ares

Taussky

et al. 2019

Neurosurgical Focus

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Intracranial aneurysms (IAs) are a result of complex interactions between biochemical and mechanical forces and can lead to significant morbidity if they rupture and cause subarachnoid hemorrhage. This review explores the role of matrix metalloproteinases (MMPs) in the pathogenesis and progression of IAs. In addition to providing a review of the normal function of MMPs, it is intended to explore the interaction between inflammation and abnormal blood flow and the resultant pathological vascular remodeling processes seen in the development and rupture of IAs. Also reviewed is the potential for the use of MMPs as a diagnostic tool for assessment of aneurysm development and progression.

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Section: Vascular Remodeling In Iasmentioning

confidence: 99%

Role of matrix metalloproteinases in the pathogenesis of intracranial aneurysms

Zhang

Ares

Taussky

et al. 2019

Neurosurgical Focus

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“…Aortic root dilation is common. Aneurysms and dissections have also been reported in carotid, vertebral, pulmonary, iliac, popliteal, hepatic, splenic, and coronary arteries (4,(16)(17)(18)(19). The significance of Loeys-Dietz syndrome is the tendency for rapid progression of disease with the mean age of death being 26.1 years (12), although aortic dissections have occurred in infants as young as three months of age, and intracerebral hemorrhage in children as young as three years.…”

Section: Discussionmentioning

confidence: 99%

Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Byard

2017

Journal of Forensic Sciences

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Loeys-Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61-year-old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high-arched palate, and pectus excavatum. There was a strong family history of Loeys-Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys-Dietz syndrome. Although Loeys-Dietz syndrome shares common characteristics with Marfan and other connective tissue syndromes, it is a distinct entity with a much more aggressive clinical course. Lethal events may not occur until later adult life; however, the identification of the syndrome and differentiation from other connective tissue disorders at autopsy is important so that genetic investigation of close relatives can be undertaken with prophylactic surgical treatment if necessary.

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“…However, the mechanisms linking seizures to a hereditary defect of the connective tissue remain likely heterogeneous and poorly studied. A possible explanation of this association may be related to the fact that collagen plays an important role in neurological growth, migration, metabolism and differentiation [7]. A further evidence supporting this hypothesis is that seizures also occurred in three reported cases of patients affected by Stickler syndrome (STL), another connective tissue disorder [8].…”

Section: Eds and Epilepsymentioning

confidence: 96%

Ehlers-Danlos syndromes and epilepsy: An updated review

Cortini

Clara

2018

Seizure

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The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS. Among them, epilepsy represents a frequent cause of morbidity in these syndromes and can influence the long-term evolution of these patients, but the mechanisms are needed to be clarified. The aim of this review is to give a comprehensive overview and to analyze a possible association between EDS and epilepsy, focusing on the various brain anomalies and the types of epilepsy reported in patients affected by EDS.

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Neurovascular manifestations of connective-tissue diseases: A review

Cited by 75 publications

References 147 publications

Role of matrix metalloproteinases in the pathogenesis of intracranial aneurysms

Role of matrix metalloproteinases in the pathogenesis of intracranial aneurysms

Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Ehlers-Danlos syndromes and epilepsy: An updated review

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