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The mutation detection rate for familial cerebral cavernous malformations (CCM) is extremely high, being about 90 % if direct sequencing of the three genes, CCM1, CCM2, and CCM3, is used in conjunction with quantitative analyses to detect larger CCM1-3 deletions/duplications. We here report on an individual who had presented with more than 30 cerebral and spinal cavernous malformations, two intracranial meningiomas, and disease manifestation only in the mid-forties. A CCM1 missense variant of unclear relevance was found during the first sequencing step. Thereafter, direct sequencing of all three CCM genes revealed the typical pathogenic loss-of-function mutation c.598C > T/p.Q200* in the CCM3 gene. Our results demonstrate that mutation analyses of all three CCM genes in the index patient regardless of previous identification of an unclassified CCM1 variant is crucial for reliable predictive testing of at-risk relatives.

Objectives This study sought to assess the feasibility and safety of a recently described technique of mechanical recanalization with the help of a stent-like device. Background In the special group of acute stroke patients with an intracranial large vessel occlusion, intravenous tissue-type plasminogen activator on its own leads to a good clinical outcome (mRS ≤2) in only 15% to 25% of cases. The aforementioned technique of mechanical recanalization showed very promising clinical results. Methods Forty patients presenting within 6 h from stroke symptom onset were enrolled. Mechanical recanalization was performed using a Solitaire FR revascularization device. The primary endpoint of the study was the clinical outcome rated with the help of the modified Rankin Scale (mRS) after 90 days. Results Twenty-four patients (60%) showed a good clinical outcome (mRS ≤2) at 90 days. One symptomatic hemorrhage was detected on follow-up computed tomography. The death rate was 12.5% (5 patients). Successful recanalization (Thrombolysis In Cerebral Infarction score ≥2b) of the target vessel was achieved in 95% of the patients with a mean of 1.8 runs with the device. Conclusions The ReFlow (Mechanical Recanalization With Flow Restoration in Acute Ischemic Stroke) study shows that mechanical recanalization with flow restoration is highly effective in stroke patients with a large intracranial vessel occlusion presenting within 4.5 h after symptom onset. (Mechanical Recanalization With Flow Restoration in Acute Ischemic Stroke [ReFlow]; NCT01210729 )

Background: In this feasibility study, we tested whether prehospital diagnostic stroke workup enables rational decision-making regarding treatment and the target hospital in persons with suspected stroke. Methods: A mobile stroke unit that delivers imaging (including multimodal brain imaging with CT angiography and CT perfusion), point-of-care-laboratory analysis, and neurologic expertise directly at the emergency site was analyzed for its use in prehospital diagnosis-based triage of suspected stroke patients. Results: We present 4 complementary cases with suspected stroke who underwent prehospital diagnostic workup that enabled direct diagnosis-based treatment decisions and reliable triage regarding the most appropriate medical facility for that individual, e.g., a primary hospital vs specialized centers of a tertiary hospital. Conclusions: This preliminary report demonstrates the feasibility of prehospital diagnostic stroke workup for immediate etiology-specific decision-making regarding the necessary time-sensitive stroke treatment and the most appropriate target hospital.

Background: Only 2-5% of patients who have a stroke receive thrombolytic treatment, mainly because of delay in reaching the hospital. We aimed to assess the efficacy of a new approach of diagnosis and treatment starting at the emergency site, rather than after hospital arrival, in reducing delay in stroke therapy. Methods: We did a randomised single-centre controlled trial to compare the time from alarm (emergency call) to therapy decision between mobile stroke unit (MSU) and hospital intervention. For inclusion in our study patients needed to be aged 18-80 years and have one or more stroke symptoms that started within the previous 2·5 h. In accordance with our week-wise randomisation plan, patients received either prehospital stroke treatment in a specialised ambulance (equipped with a CT scanner, point-of-care laboratory, and telemedicine connection) or optimised conventional hospital-based stroke treatment (control group) with a 7 day follow-up. Allocation was not masked from patients and investigators. Our primary endpoint was time from alarm to therapy decision, which was analysed with the Mann-Whitney U test. Our secondary endpoints included times from alarm to end of CT and to end of laboratory analysis, number of patients receiving intravenous thrombolysis, time from alarm to intravenous thrombolysis, and neurological outcome. We also assessed safety endpoints. This study is registered with ClinicalTrials.gov, number NCT00153036. Findings: We stopped the trial after our planned interim analysis at 100 of 200 planned patients (53 in the prehospital stroke treatment group, 47 in the control group), because we had met our prespecified criteria for study termination. Prehospital stroke treatment reduced the median time from alarm to therapy decision substantially: 35 min (IQR 31-39) versus 76 min (63-94), p

Degenerative alterations of the spine are among the most common causes of complaints of the musculoskeletal system. Imaging procedures are an established component of diagnostics and differential diagnoses. A reduction in height of the intervertebral space and sclerotization of the basal and covering plates are part of the first radiological alterations and in the further course can be accompanied by formation of spondylophytes, arthrosis of the intervertebral joints and degenerative vertebral surface gliding. However, early changes of the mobile segments can often not be visualized in x-ray images. Computed tomography (CT) and magnetic resonance imaging (MRI) substantially improve the diagnostic options. Using MRI the spinal column and the surrounding soft tissues can be visualized in 3-D and a differential diagnostic differentiation between inflammatory, traumatized or neoplastic processes is possible. A lack of correlation between the imaging findings and clinical symptoms remains problematic. A meaningful interpretation of x-ray images and MRI can only be made with the appropriate knowledge of the symptoms and possible diseases.

Intradural arteriovenous fistulas can occur at any location within the dura mater. Patients can be clinically asymptomatic or show symptoms ranging from mild up to fatal hemorrhaging. Previously dural arteriovenous fistulas were often dealt with surgically via a variety of access routes. Since recent years there is now the possibility to close most dural arteriovenous fistulas by endovascular embolisation. In addition, stereotactic radiation therapy is available, which can also achieve good results especially in combination with surgery.

Als eine embryologische Variante der venosen Drainage macht die so genannte „developmental venous anomaly“ (DVA) etwa 60% aller zerebralen vaskularen Malformationen aus. Der vormalige Terminus „venoses Angiom“ sollte nicht mehr benutzt werden, da er abnormale Gefasstrukturen mit einem erhohten Blutungsrisiko impliziert. Die DVA werden oft inzidentell entdeckt und sind nur selten symptomatisch. Das typische Erscheinungsbild ist durch dilatierte, medusenhauptartig angeordnete venose Marklagergefase gekennzeichnet, die in eine grosere Sammelvene drainieren. Der Abfluss erfolgt uber das oberflachliche oder tiefe Venensystem. Klinisch wichtig ist die haufige Assoziation mit anderen zerebralen Gefasmalformationen, insbesondere kavernosen Angiomen, nach denen im Rahmen der Diagnostik explizit gesucht werden muss, da diese eine potenzielle Blutungsquelle darstellen und ein therapeutisches Vorgehen erfordern konnen.

In dieser Ubersichtsarbeit wird auf nichtneoplastische intraspinale Raumforderungen eingegangen, deren Kenntnis zur Abgrenzung gegen tumorose Prozesse erforderlich ist. Hierzu wird eine Auswahl klinisch relevanter Differenzialdiagnosen aus dem Formenkreis entzundlicher, vaskularer und degenerativer Erkrankungen vorgestellt. Zudem werden spezielle klinische Befunde sowie das radiologische Vorgehen und therapeutische Moglichkeiten skizziert.

This study sought to assess the feasibility and safety of a recently described technique of mechanical recanalization with the help of a stent-like device.In the special group of acute stroke patients with an intracranial large vessel occlusion, intravenous tissue-type plasminogen activator on its own leads to a good clinical outcome (mRS ≤ 2) in only 15% to 25% of cases. The aforementioned technique of mechanical recanalization showed very promising clinical results.Forty patients presenting within 6 h from stroke symptom onset were enrolled. Mechanical recanalization was performed using a Solitaire FR revascularization device. The primary endpoint of the study was the clinical outcome rated with the help of the modified Rankin Scale (mRS) after 90 days.Twenty-four patients (60%) showed a good clinical outcome (mRS ≤ 2) at 90 days. One symptomatic hemorrhage was detected on follow-up computed tomography. The death rate was 12.5% (5 patients). Successful recanalization (Thrombolysis In Cerebral Infarction score ≥ 2b) of the target vessel was achieved in 95% of the patients with a mean of 1.8 runs with the device.The ReFlow (Mechanical Recanalization With Flow Restoration in Acute Ischemic Stroke) study shows that mechanical recanalization with flow restoration is highly effective in stroke patients with a large intracranial vessel occlusion presenting within 4.5 h after symptom onset. (Mechanical Recanalization With Flow Restoration in Acute Ischemic Stroke [ReFlow]; NCT01210729).

Objectives The purpose of this study is to demonstrate the technical success of carotid artery stenting in acute extracranial internal carotid artery (ICA) occlusion as well as the benefit in clinical outcome. Background Stroke caused by acute occlusion of the ICA is associated with a significant level of morbidity and mortality. For this type of lesion, treatment with standard intravenous thrombolysis alone leads to a good clinical outcome in only 17% of the cases, with a death rate as high as 55%. Recanalization of the occluded ICA can lead to an improvement in acute symptoms of stroke, prevent possible deterioration, and reduce long-term stroke risk. At present, there is no consensus treatment for patients with acute ischemic stroke presenting with severe clinical symptoms due to atherosclerotic occlusion of the extracranial ICA. Methods Carotid artery stenting was performed in 22 patients with acute atherosclerotic extracranial ICA occlusion within 6 h of stroke symptom onset. In 18 patients, there was an additional intracranial occlusion at the level of the terminal segment of the ICA (n = 4) and at the level of the middle cerebral artery (n = 14). Intracranial occlusions were either treated with the Penumbra system or the Solitaire stent–based recanalization system, or a combination of mechanical recanalization and intra-arterial thrombolysis. Recanalization results were assessed by angiography immediately after the procedure. The neurologic status was evaluated before and after the treatment with a follow-up as long as 90 days using the National Institutes of Health Stroke Scale and the modified Rankin Scale. Results Successful revascularization of extracranial ICA with acute stent implantation was achieved in 21 patients (95%). There was no acute stent thrombosis. After successful recanalization of the origin of the ICA, the intracranial recanalization with Thrombolysis In Myocardial Infarction flow grade 2/3 was achieved in 11 of the 18 patients (61%). The overall recanalization rate (extracranial and intracranial) was 14 of 22 patients (63%). Nine patients (41%) had a modified Rankin Scale score of ≤2 at 90 days. The mortality rate was 13.6% at 90 days. Conclusions Carotid artery stenting in acute atherosclerotic extracranial ICA occlusion with severe stroke symptoms is feasible, safe, and useful within the first 6 h after symptom onset.