Intracranial Cavernous Malformations

Maraire, J. Nozipo; Awad, Issam A.

doi:10.1227/00006123-199510000-00001

Cited by 315 publications

(18 citation statements)

References 79 publications

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“…Treatment ranges from therapy with anti-epileptic drugs in patients with seizures, to surgical excision of accessible lesions in patients who suffer from hemorrhage or intractable seizures (9)(10)(11)(12)(13).…”

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confidence: 99%

KRIT1 , a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

Günel

Laurans

Shin

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

111

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Mutations in Krev1 interaction trapped gene 1 (KRIT1) cause cerebral cavernous malformation, an autosomal dominant disease featuring malformation of cerebral capillaries resulting in cerebral hemorrhage, strokes, and seizures. The biological functions of KRIT1 are unknown. We have investigated KRIT1 expression in endothelial cells by using specific anti-KRIT1 antibodies. By both microscopy and coimmunoprecipitation, we show that KRIT1 colocalizes with microtubules. In interphase cells, KRIT1 is found along the length of microtubules. During metaphase, KRIT1 is located on spindle pole bodies and the mitotic spindle. During late phases of mitosis, KRIT1 localizes in a pattern indicative of association with microtubule plus ends. In anaphase, the plus ends of the interpolar microtubules show strong KRIT1 staining and, in late telophase, KRIT1 stains the midbody remnant most strongly; this is the site of cytokinesis where plus ends of microtubules from dividing cells overlap. These results establish that KRIT1 is a microtubule-associated protein; its location at plus ends in mitosis suggests a possible role in microtubule targeting. These findings, coupled with evidence of interaction of KRIT1 with Krev1 and integrin cytoplasmic domain-associated protein-1 alpha (ICAP1 ␣), suggest that KRIT1 may help determine endothelial cell shape and function in response to cell-cell and cell-matrix interactions by guiding cytoskeletal structure. We propose that the loss of this targeting function leads to abnormal endothelial tube formation, thereby explaining the mechanism of formation of cerebral cavernous malformation (CCM) lesions. C erebral cavernous malformation (CCM) is a disease affecting brain vasculature. Characteristic lesions affect capillaries and have grossly dilated vascular channels lined by only a single layer of endothelium without normal vessel wall elements such as smooth muscle or intervening neural parenchyma (1). The nature of these lesions suggests an abnormality in normal development of these capillaries; however, the mechanism of their occurrence and an explanation for their focal nature have remained elusive.The aberrant channels in CCM lesions are fragile, commonly resulting in intracranial hemorrhage. Clinical signs and symptoms are largely determined by the size and location of the hemorrhage, and range from incidental findings on MRI (Fig. 1) to rare catastrophic cerebral hemorrhage resulting in death. The disease has been recognized as a common clinical entity because of the advent of MRI (2). Both MRI and autopsy studies suggest a prevalence of cavernous malformation up to 0.5%, although only 20-30% of affected individuals develop symptomatic disease (3-8).Symptomatic patients typically present in the third through the fifth decades of life (3) with headaches, seizures, or focal neurological deficits. Treatment ranges from therapy with anti-epileptic drugs in patients with seizures, to surgical excision of accessible lesions in patients who suffer from hemorrhage or intractable seizures (9-13).Si...

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confidence: 99%

KRIT1 , a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

Günel

Laurans

Shin

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

111

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“…The optic nerve and the facial/vestibulocochlear complex are the ones most commonly affected. [61214]…”

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confidence: 99%

Resection of an oculomotor nerve cavernous angioma

Obaid

Denis

et al. 2014

Surg Neurol Int

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Background:Cavernous angiomas (CAs) of cranial nerves are rare, and their occurrence on the third cranial nerve is particularly rare. Surgical management of such CAs involving the third nerve is controversial. We describe a case of a symptomatic CA of the oculomotor nerve and review the literature in order to ascertain the relevance of surgical intervention.Case Description:A 71-year-old male patient presented with a 2-month history of progressive oculomotor nerve paralysis. CA of the oculomotor nerve was suspected on magnetic resonance imaging (MRI). The patient underwent complete resection of the CA through a subtemporal approach, preserving the integrity of the nerve. Histopathological analysis confirmed the diagnosis of CA. Despite optimal resection, the patient did not improve postoperatively.Conclusion:CAs of cranial nerves can cause rapid or progressive neurological deterioration. Whereas delayed treatment often leads to irreversible deficits, early nerve-sparing surgical excision of the CAs may potentially restore function.

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“…Abnormal differentiation of capillary vessels during the intrauterine period may cause the formation of intraosseous hemangiomas. Trauma has not been thought to be a predisposing factor [1,5]. These tumors are mostly found in vertebral bodies and are rarely seen in the calvarium [6].…”

Section: Discussionmentioning

confidence: 99%

“…These hemangiomas present as expansile lesions producing local swelling and pain [1]. Radiology shows asymmetric enlargement of the skull with a few classic radiological signs [2].…”

Section: Introductionmentioning

confidence: 99%