Familial cerebral cavernous angioma: A gene localized to a 15‐cm interval on chromosome 7q

Gil‐Nagel, Antonio; Dubovsky, Jan; Wilcox, Kimerly J.; Stewart, Janet; Anderson, Vernon E.; Leppik, Ilo E.; Orr, Harry T.; Johnson, Eric W.; Weber, James L.; Rich, Stephen S.

doi:10.1002/ana.410390619

Cited by 49 publications

(12 citation statements)

References 13 publications

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“…The pattern of inheritance in studies dealing with familial forms is consistent with an autosomal dominant mode with incomplete clinical penetrance and possible de novo mutations [51]. A genetic mutation has been found on the 7q chromosome in Hispanic Americans [32], but the genetic heterogeneity of inherited cerebral cavernomas has been demonstrated [25,31,33]. Compared with sporadic cavernomas, familial cavernomas are characterized statistically by a higher frequency of multiple cavernomas and infratentorial localizations and by lower age at clinical presentation [70].…”

Section: Familial Cerebral Cavernomasmentioning

confidence: 97%

Central nervous system cavernomas in the pediatric age group

et al. 2001

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Pediatric CNS cavernomas still are diagnostically and therapeutically challenging lesions. With the help of magnetic resonance imaging, the natural history of cavernomas now guiding therapeutic strategies is well documented in adults but remains poorly known in the pediatric age group, since most previous studies dealt with adult and pediatric patients together. This paper focuses on clinical, imaging, and therapeutic features and differential diagnosis of CNS cavernomas with an emphasis on their specificities in the pediatric age group. It is based upon a critical review of the literature and our single-center experience with 36 children (35 with cerebral cavernomas and one with spinal cord cavernoma) operated on during the period of 1985-1999 as well as with seven additional unoperated pediatric cases. Our experience resembles that of other authors regarding the high hemorrhagic risk in children compared to adults. These angiographically occult vascular malformations are often revealed by the sudden onset of intracerebral hematoma with acute focal neurologic deficits, concomitant manifestations, and/or signs of raised intracranial pressure. True epilepsy is less common and may be related to chronic or recurrent microbleeding. Evocative imaging findings are also somewhat different in the two age groups, and we propose here an imaging classification of cerebral cavernomas based on both morphological and signal characteristics that is applicable to the pediatric age group. A sharply demarcated spherical intracerebral hematoma or heterogeneous lesion should always make one consider the hypothesis of a cavernoma. For symptomatic lesions and most rapidly growing asymptomatic lesions, the treatment of choice is complete microsurgical excision preceded by careful anatomical and functional evaluation. Improvements in surgical techniques and anesthesiology over recent years have brought good results in most operated children. The limited role of radiosurgery in the management of pediatric cerebral cavernomas is discussed. There is still a need for well-conducted specific evaluation of the natural history of these lesions in the pediatric age group to aid in systematic research, follow-up, and therapeutic strategies for asymptomatic cavernomas.

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Section: Familial Cerebral Cavernomasmentioning

confidence: 97%

Central nervous system cavernomas in the pediatric age group

et al. 2001

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“…Dubovksy et al 13 and Gil-Nagel et al 16 were able to map the responsible gene to 7q. Guenl et al 18 discovered through analysis of genetic markers a founder mutation among familial and sporadic cases in Hispanic-Americans of Mexican descent, suggesting a common ancestor among these patients.…”

Section: Risk Factors That Increase Hemorrhage Riskmentioning

confidence: 99%

Update on the natural history of cavernous malformations and factors predicting aggressive clinical presentation

Washington¹,

McCoy²,

Zipfel

2010

FOC

137

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Cavernous malformations (CMs) are angiographically occult, low-pressure neurovascular lesions with distinct imaging and clinical characteristics. They present with seizure, neurological compromise due to lesion hemorrhage or expansion, or as incidental findings on neuroimaging studies. Treatment options include conservative therapy, medical management of seizures, surgical intervention for lesion resection, and in select cases stereotactic radiosurgery. Optimal management requires a thorough understanding of the natural history of CMs including consideration of issues such as mode of presentation, lesion location, and genetics that may impact the associated neurological risk. Over the past 2 decades, multiple studies have been published, shedding valuable light on the clinical characteristics and natural history of these malformations. The purpose of this review is to provide the reader with a concise consolidation of this published material such that they may better understand the risks associated with CMs and their implications on patient treatment.

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“…The familial forms are characterized by their multiple character, and autosomal dominant inheritance, an incomplete clinical and a complete MR penetrance [1, 2]. A first gene (CCM1) was mapped to the long arm of chromosome 7 [3, 4, 5, 6, 7, 8]. Two additional genes have been recently mapped to the short arm of chromosome 7 (7p15–13) and the long arm of chromosome 3 (3q25.2–27) [9].…”

Section: Introductionmentioning

confidence: 99%