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Changbin Shi, Robert Shenkar, H. Hunt Batjer, Irene J. Check and Issam A. Awad

AD , Craven TE : An analysis of the natural history of cavernous angiomas . J Neurosurg 75 : 702 – 708 , 1991 3 Gault J , Shenkar R , Recksiek P , Awad IA : Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion . Stroke 36 : 872 – 874 , 2005 4 Gunel M , Laurans MS , Shin D , DiLuna ML , Voorhees J , Choate K , : KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein . Proc Natl Acad Sci U S A 99 : 10677 – 10682 , 2002 5

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Kaya Bilguvar, Mohamad Bydon, Fatih Bayrakli, A. Gulhan Ercan-Sencicek, Yasar Bayri, Christopher Mason, Michael L. DiLuna, Margretta Seashore, Richard Bronen, Richard P. Lifton, Matthew State and Murat Gunel

, Pheasant M , Makunin I , Stephen S , Kent WJ , Mattick JS , : Ultraconserved elements in the human genome . Science 304 : 1321 – 1325 , 2004 2 Bergametti F , Denier C , Labauge P , Arnoult M , Boetto S , Clanet M , : Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations . Am J Hum Genet 76 : 42 – 51 , 2005 3 Denier C , Goutagny S , Labauge P , Krivosic V , Arnoult M , Cousin A , : Mutations within the MGC4607 gene cause cerebral cavernous malformations . Am J Hum Genet

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Issam Awad and Pascal Jabbour

✓Seizures and epilepsy are frequent clinical manifestations of cerebral cavernous malformations (CCMs) and represent the most common symptomatic presentation of supratentorial lesions. Clinicians often diagnose CCMs in patients after a first seizure, or in some cases after obtaining neuroimaging studies in patients suffering from chronic epilepsy previously thought to be idiopathic. In some cases, the lesion is clinically significant solely because of its epileptogenicity, but in others there may be concern about potential hemorrhage or focal neurological deficits from a similar lesion.

The authors present current pathophysiological concepts related to epilepsy associated with CCMs. They discuss the spectrum of seizure disorders associated with these lesions and review the natural history, prognosis, and options for therapeutic intervention.

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Daniel D. Cavalcanti, M. Yashar S. Kalani, Nikolay L. Martirosyan, Justin Eales, Robert F. Spetzler and Mark C. Preul

T he estimated prevalence of stroke in the US in 2006 was 6,400,000 cases. Although ischemic stroke is by far the more frequent presentation, 10% of all strokes are hemorrhagic in nature. 62 One of the causes of hemorrhagic stroke is the presence of vascular malformations with friable vessels that are prone to rupture due to changes in systemic blood pressure or stressors. Cerebral cavernous malformations account for 5%–15% of all vascular malformations in the CNS. 19 , 31 , 63 , 73 , 84 In this review we focus on the entity of the CCM in terms of the

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Khaled M. Krisht, Kevin J. Whitehead, Toba Niazi and William T. Couldwell

: Nature Medicine (Whitehead KJ, Chan AC, Navankasattusas S, Koh W, London NR, Ling J, et al: The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. Nat Med 15: 177–184), copyright 2009. CTL = control; NS = not significant. The CCM proteins have also been found to interact with MAPK pathways. Although CCM2 had previously been shown to be important for p38 MAPK signaling in the cellular response to osmotic shock, Whitehead et al. 18 found that a reduction of CCM2 increased the phosphorylation of JNK and its upstream kinases

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Sanjay Yadla, Pascal M. Jabbour, Robert Shenkar, Changbin Shi, Peter G. Campbell and Issam A. Awad

, reveals reticulated lesions surrounded by low-intensity signals from hemosiderin-laden macrophages, giving a classic “popcorn” or “mulberry” appearance. 62 Cerebral cavernous malformations are characterized by separate familial and sporadic forms of the disease that have been described in multiple reports over the past 4 decades. 8 , 13 , 22 , 27 , 33 , 34 , 46 The familial form of the disease is inherited in an autosomal dominant pattern. It is involved in up to 30% of all cases and is present in a greater proportion of Hispanic Americans of Mexican descent than

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Ozlem Guzeloglu-Kayisli, Umit A. Kayisli, Nduka M. Amankulor, Jennifer R. Voorhees, Ozgun Gokce, Michael L. Diluna, Maxwell S. H. Laurans, Guven Luleci and Murat Gunel

staining was observed on venous structures (Vein) (A and C). Original magnification × 10 (A), × 40 (B), and × 20 (C). Discussion Cerebral cavernous malformation is a vascular disorder associated with the defective development and formation of CNS blood vessels. Our previous results demonstrate specific expression of KRIT1 in endothelial cells of microvessels and small arteries along with other cells important in the formation of cerebral vasculature, such as astrocytes and astrocytic foot processes. 13 These results may explain why CCM lesions are CNS

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Shervin R. Dashti, Alan Hoffer, Yin C. Hu and Warren R. Selman

✓Cerebral cavernous malformations (CMs) are angiographically occult neurovascular lesions that consist of enlarged vascular channels without intervening normal parenchyma. Cavernous malformations can occur as sporadic or auto-somal-dominant inherited conditions. Approximately 50% of Hispanic patients with cerebral CMs have the familial form, compared with 10 to 20% of Caucasian patients. There is no difference in the pathological findings or presentation in the sporadic and familial forms. To date, familial CMs have been attributed to mutations at three different loci: CCM1 on 7q21.2, CCM2 on 7p15-p13, or CCM3 on 3q25.2-q27. The authors summarize the current understanding of the molecular events underlying familial CMs.

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Philipp Dammann, Karsten Wrede, Ramazan Jabbarli, Salome Neuschulte, Katja Menzler, Yuan Zhu, Neriman Özkan, Oliver Müller, Michael Forsting, Felix Rosenow and Ulrich Sure

E pileptic seizures are a common manifestation in patients harboring cerebral cavernous malformations (CCMs). They occur in approximately 25% of symptomatic CCM cases. 4 , 24 Most patients with a CCM-related first seizure will develop epilepsy within 5 years. 1 Therefore, it is widely accepted that antiepileptic drug (AED) treatment is indicated if the diagnosis of definite or probable cavernoma-related epilepsy (CRE) is confirmed. 29 Despite evidence from several large observational studies 5 , 6 , 14 , 33 , 36 and systematic reviews 12 , 24 that the

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Yuan Zhu, Christian Peters, Monika Hallier-Neelsen, Dorothea Miller, Axel Pagenstecher, Helmut Bertalanffy and Ulrich Sure

C erebral cavernous malformation is a neurovascular disease that affects almost 0.5% of the population, and in 20–30% of cases it causes symptoms including headaches, seizures, and neurological deficits due to repeated microhemorrhages. 1 Cerebral cavernous malformations occur either sporadically (in 50–80%) or in a familial pattern. The former usually appears as a single lesion, whereas the latter arises with multiple lesions and a family history of CCMs and/or an autosomal dominant mode of inheritance. Pathologically, CCMs are characterized by enlarged