Epidemiology of cavernous malformations

Goldstein, Hannah; Solomon, Robert A.

doi:10.1016/b978-0-444-63640-9.00023-0

Cited by 54 publications

(57 citation statements)

References 80 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The distribution of lesions included cerebrum, cerebellum, brain stem and in some fish also the spinal cord ( Figure 7I). This distribution pattern is similar to that found in patients 30 .…”

Section: Cerebral Cavernous Malformations In Adult Zebrafishsupporting

confidence: 88%

Abortive Intussusceptive Angiogenesis Causes Multi-Cavernous Vascular Malformations

Tran

Shaked

et al. 2020

Preprint

View full text Add to dashboard Cite

Mosaic inactivation of CCM2 in humans causes cerebral cavernous malformations (CCMs) containing adjacent dilated blood-filled multi-cavernous lesions. We used CRISPR-Cas9 mutagenesis to inactivate zebrafish ccm2 resulting in novel lethal multi-cavernous lesions in the embryonic caudal venous plexus (CVP) caused by obstruction of blood flow by intraluminal pillars. These pillars mimic intussusceptive angiogenesis; however, the pillars failed to fuse to split the pre-existing vessel in two. Abortive intussusceptive angiogenesis stemmed from mosaic inactivation of ccm2 leading to patchy klf2a over-expression and resulting aberrant flow signaling. Surviving adult fish manifested histologically-typical hemorrhagic CCM. Formation of mammalian CCM requires flow-regulated transcription factors, KLF2 and KLF4; fish CCM and the embryonic CVP lesion failed to form in klf2a null fish indicating a common pathogenesis with the mammalian lesion. These studies describe the first zebrafish CCM model and establish a mechanism that can explain the formation of characteristic multi-cavernous lesions.

show abstract

Section: Cerebral Cavernous Malformations In Adult Zebrafishsupporting

confidence: 88%

Abortive Intussusceptive Angiogenesis Causes Multi-Cavernous Vascular Malformations

Tran

Shaked

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…Up to 80–90% of familial CMs are multiple lesions. Multiplicity of intracranial CMs were found increasing the risk of hemorrhage and the familial form of CMs is more aggressive (16–19). We speculate that the aggressive characteristic of coexistence of intracranial and spinal cord CMs is related to its familial form of CMs, which was found more aggressive than sporadic CM in previous literature (18, 19).…”

Section: Discussionmentioning

confidence: 99%

Coexistence of Intracranial and Spinal Cord Cavernous Malformations Predict Aggressive Clinical Presentation

Ren

Hong

et al. 2019

Front. Neurol.

View full text Add to dashboard Cite

Background: Patients with spinal cord cavernous malformations (CMs) are at increased risk for multiple neuraxis CMs. Few studies focused on the natural history of patients with coexistence of intracranial and spinal cord CMs. Methods: Forty patients who underwent both intracranial and spinal MR imaging from a single center were reviewed retrospectively. American Spinal Injury Association (ASIA) impairment scale was used to evaluate neurological and disability status. Results: The median age of the 40 patients was 40.6 years old (range 9–69), and the male-to-female ratio was 2.1:1. The mean size of the intramedullary lesions was 10.1 ± 5.8 mm (range, 3.0–34.0 mm). Six patients (15%) harbored at least one intracranial lesion. Five of the 6 patients (83.3%) suffered aggressive clinical presentations with severe neurological and disability status; in patients with sporadic spinal CMs, the proportion was 26.5% (9 of 34). Coexistence of intracranial and spinal cord CMs is more likely to follow an aggressive course ( P = 0.031, OR = 19.547, 95% CI = 1.322–289.123). In the postoperative long-term follow up, the unfavorable rate of patients with associated intracranial CMs was significantly higher than that of patients with sporadic spinal cord CMs ( P = 0.049). Conclusions: The prevalence of associated intracranial CMs in patients with spinal cord CMs was 15%. Coexistence of intracranial and spinal cord CMs is more likely to follow an aggressive course. This study highlights the necessity of intracranial MR imaging for patients with spinal cord CMs to benefit to the predicting prognosis and selection of treatment strategies.

show abstract

“…Cerebral cavernous malformation is a cerebrovascular disease causing recurrent cerebral hemorrhage, headaches, seizures and stroke, which is histologically characterized by clusters of dilated vascular sacs with ECs lacking tight junctions and mural cell coverage (Goldstein and Solomon, 2017;Stapleton and Barker, 2018). Genetically, CCMs can be categorized into familial and sporadic types.…”

Section: Cerebral Cavernous Malformation (Ccm)mentioning

confidence: 99%

The Roles of TGF-β Signaling in Cerebrovascular Diseases

Zhang

Yang

2020

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

Cerebrovascular diseases are one of the leading causes of death worldwide, however, little progress has been made in preventing or treating these diseases to date. The transforming growth factor-β (TGF-β) signaling pathway plays crucial and highly complicated roles in cerebrovascular development and homeostasis, and dysregulated TGF-β signaling contributes to cerebrovascular diseases. In this review, we provide an updated overview of the functional role of TGF-β signaling in the cerebrovascular system under physiological and pathological conditions. We discuss the current understanding of TGF-β signaling in cerebral angiogenesis and the maintenance of brain vessel homeostasis. We also review the mechanisms by which disruption of TGF-β signaling triggers or promotes the progression of cerebrovascular diseases. Finally, we briefly discuss the potential of targeting TGF-β signaling to treat cerebrovascular diseases.

show abstract

Epidemiology of cavernous malformations

Cited by 54 publications

References 80 publications

Abortive Intussusceptive Angiogenesis Causes Multi-Cavernous Vascular Malformations

Abortive Intussusceptive Angiogenesis Causes Multi-Cavernous Vascular Malformations

Coexistence of Intracranial and Spinal Cord Cavernous Malformations Predict Aggressive Clinical Presentation

The Roles of TGF-β Signaling in Cerebrovascular Diseases

Contact Info

Product

Resources

About