Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL), familial vascular leukoencephalopathy. Cerebral Autosomal Dominant Arteriopathy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. Explore symptoms, inheritance, genetics of this condition.

The results indicate that the BMET and the MoCA are clinically useful and sensitive screening measures for early cognitive impairment in patients with CADASIL.

Details of the image Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Modality: MRI (Ax T2 C2-T1)

Details of the image Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Modality: MRI (T2)

BACKGROUND AND PURPOSE: White matter hyperintensities (WMH) on MRI are a quantitative marker for sporadic cerebral small vessel disease and are highly heritable. To date, large-scale genetic studies have identified only a single locus influencing WMH burden. This might in part relate to biological heterogeneity of sporadic WMH. The current study searched for genetic modifiers of WMH volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease.. METHODS: We performed a genome-wide association study to identify quantitative trait loci for WMH volume by combining data from 517 CADASIL patients collected through 7 centers across Europe. WMH volumes were centrally analyzed and quantified on fluid attenuated inversion recovery images. Genotyping was performed using the Affymetrix 6.0 platform. Individuals were assigned to 2 distinct genetic clusters (cluster 1 and cluster 2) based on their genetic background.. RESULTS: ...

Title:Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL. VOLUME: 16 ISSUE: 1. Author(s):Xiaoxia Hou, Chuan He, Qingwen Jin, Qi Niu, Guang Ren and Hong Cheng. Affiliation:Department of Neurology, First Affiliated Hospital of Nanjing Medical University, P.O. Box: No. 300, Guangzhou Road, Nanjing 210029, Jiangsu Province. Keywords:CADASIL, genetic testing, ischemic infarction, microbleeds, migraine, NOTCH3 gene.. Abstract:Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) results from NOTCH3 gene mutations, which lead to the degeneration of vascular smooth muscle cells (VSMCs). The clinical presentation of CADASIL patients is dependent on the impact of other vascular risk factors and the type of NOTCH3 mutation present. Methods: Here, we report a rare pathogenic mutation on exon 14 of the NOTCH3 gene in a Chinese family affected by CADASIL with phenotypic peculiarities. We performed genetic testing, clinical and ...

SUD has been reported to account for 26% of cases of premature mortality in patients with CADASIL.6 To explain such a high incidence of SUD, we investigated risk factors for life-threatening arrhythmias (reduced heart rate variability, sympathetic overactivity, and QTc prolongation) in these patients.. The results of this study showed statistically significant reduction in all HRV frequency-domain parameters associated with a higher LF/HF ratio in CADASIL patients compared with normal subjects. These data are consistent with autonomic derangement and suggest that sympathetic and parasympathetic autonomic cardiovascular regulatory systems may both be impaired in these patients.20 Transient or persistent abnormalities in sympathetic-parasympathetic interactions have been shown to favor arrhythmia in patients with heart disease as well as in the general population.21 In this respect, primary sympathetic hyperactivity and vagal tone suppression may both predispose to life-threatening cardiac ...

No specific treatment for CADASIL is available. While most treatments for CADASIL patients symptoms - including migraine and stroke - are similar to those without CADASIL, these treatments are almost exclusively empiric, as data regarding their benefit to CADASIL patients is limited.[14] Antiplatelet agents such as aspirin, dipyridamole, or clopidogrel might help prevent strokes; however, anticoagulation may be inadvisable given the propensity for microhemorrhages.[15] Control of high blood pressure is particularly important in CADASIL patients.[14] Short-term use of atorvastatin, a statin-type cholesterol-lowering medication, has not been shown to be beneficial in CADASIL patients cerebral hemodynamic parameters,[16] although treatment of comorbidities such as high cholesterol is recommended.[17] Stopping oral contraceptive pills may be recommended.[18] Some authors advise against the use of triptan medications for migraine treatment, given their vasoconstrictive effects,[19] although this ...

Objective Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small vessel disease of the brain caused by mutations in the NOTCH3 gene. CADASIL progresses, in some cases, to subcortical dementia with a particular cognitive impairment. Different diseases in the dementia spectrum share a central cholinergic and sensorimotor plasticity alteration. We aimed to study different intracortical circuits and sensorimotor plasticity in CADASIL patients using transcranial magnetic stimulation protocols, and to determine whether these characteristics correlated with the results of clinical neuropsychological evaluation.. ...

Electron microscopy of the skin biopsy showed proliferation of vascular smooth-muscle cells, crenation of the internal elastic lamina and fragmentation of elastic fibres. The basement membrane was irregular and osmiophilic granules were observed.. Neurophysiological examination showed normal visual, auditory and somatosensory evoked potentials, while the EEG revealed a single focal burst of sharp transients left mid-temporally; the alpha rhythm showed lower voltage on the left side.. Case 5. A 67-year-old white woman presented with memory problems and behavioural disturbances. The short-term memory loss had commenced 3 years previously; the behavioural disturbances were more recent, involving paranoid delusions, inappropriate behaviour and an obsession with sweets and diet pills. Episodes of confusion and a gait disturbance involving stiffness of the right leg had been noticed. Previously, the patient had suffered from migraine and had been treated for depression. She did not smoke. At least 2 ...

Notch signaling is a very conservative system of cell-cell communications playing an essential role in vascular development and human vascular diseases. One of such diseases is a hereditary vascular degenerative disorder known as cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL). The disorder is caused by mutations in the NOTCH 3 gene encoding a transmembrane receptor of the same name present in vessels only on vascular smooth muscle cells and pericytes. The disease involves mainly small arteries and capillaries in which degeneration and loss of cells expressing Notch 3 receptor is observed. In the affected vessels accumulation of Notch 3 extracellular domain (N3-ECD) and granular osmiophilic material (GOM) containing N3-ECD are also found. Although pathogenesis of CADASIL is still unknown there are two main distinct hypotheses concerning its development. The first of them assumes that the disease is caused by dysfunction of the mutated Notch 3 ...

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the most common hereditary vascular dementia. CADASIL is a systemic disease of small and medium-sized arteries although the symptoms are almost exclusively neurological, including migraineous headache, recurrent ischemic episodes, cognitive impairment and, finally, subcortical dementia. CADASIL is caused by over 170 different mutations in the NOTCH3 gene, which encodes a receptor expressed in adults predominantly in the vascular smooth muscle cells. The function of NOTCH3 is not crucial for embryonic development but is needed after birth. NOTCH3 directs postnatal arterial maturation and helps to maintain arterial integrity. It is involved in regulation of vascular tone and in the wound healing of a vascular injury. In addition, NOTCH3 promotes cell survival by inducing expression of anti-apoptotic proteins. NOTCH3 is a membrane-spanning protein with a large extracellular domain (N3ECD) ...

This mutation was found in four members of a family in whom affected members presented with dementia, spastic paraparesis, and white-matter lesions (Marrosu et al., 2006). Memory impairment and personality changes characterized the onset of disease, which ranged between 32 and 45 years of age. In addition, motor impairments, including spastic paraparesis, emerged early on. All mutation carriers had an APOE 3/3 genotype. The mutation was absent from 96 patients with sporadic multiple sclerosis and 96 unrelated, healthy controls.. Neuropathology. Neuropathological data are unavailable. However, MRI scans from four individuals revealed disseminated white-matter lesions reminiscent of those found in multiple sclerosis (Marrosu et al., 2006). Areas of hyperintensity in the frontal and temporal lobes were similar to those seen in cerebral autosomal-dominant arteriopathy (CADASIL), but no subcortical lacunar lesions typical of CADASIL were observed. Two subjects demonstrated multiple microbleeds in ...

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) is an archetypal small vessel disease of the brain caused by dominant mutations in the NOTCH3 receptor. Cardinal vascular lesions include deposition of granular osmiophilic material (GOM) within the basal lamina of smooth muscle cells, progressive smooth muscle cell loss, and fibrosis of the media. Pathogenic mutations alter the number of cysteine residues in the extracellular domain of NOTCH3 (Notch3 ECD), leading to its abnormal accumulation in the GOM deposits. Vascular smooth muscle cell has been identified as the primary target cell in this disease. Pathophysiological processes leading from NOTCH3 mutations to smooth muscle cell loss remain poorly understood.. The investigators propose to study these mechanisms by reprogramming skin cells to become stem cells and then differentiating them to vascular smooth muscle cells.. The hypothesis of this study is that the differentiated smooth muscle ...

The Notch protein is a transmembrane signaling protein responsible for regulating several important pathways among all metazoans including cell proliferation, differentiation, and death. Notch exists as one protein in Drosophila, but has four homologs in mice and humans (Notch1- 4). A defining component of the Notch protein is the presence of 29-36 tandem epidermal growth factor-like (EGF) repeats, small protein motifs defined by the presence of six cysteines forming three disulfide bonds. Defects in Notch have been linked to various diseases like Alagille syndrome and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL is responsible for early onset of dementia in patients aged 40-50, along with migraines and stroke. CADASIL is characterized by the presence and accumulation of granular osmiophilic material (GOMs) and Notch3 extracellular domain in close proximity to vascular smooth muscle cells, eventually leading to the degradation of ...

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) represents the most common hereditary form of cerebral small vessel disease characterized by early-onset stroke and premature dementia. It is caused by mutations in the transmembrane receptor Notch3, which promote the aggregation and accumulation of the Notch3 extracellular domain (Notch3-ECD) within blood vessel walls. This process is believed to mediate the abnormal recruitment and dysregulation of additional factors including extracellular matrix (ECM) proteins resulting in brain vessel dysfunction. Based on recent evidence indicating a role for the transforming growth factor-β (TGF-β) pathway in sporadic and familial small vessel disease we studied fibronectin, fibrillin-1 and latent TGF-β binding protein 1 (LTBP-1), three ECM constituents involved in the regulation of TGF-β bioavailability, in post-mortem brain tissue from CADASIL patients and control subjects. Fibronectin and fibrillin-1 were

Publication date: Available online 19 February 2020Source: Multiple Sclerosis and Related DisordersAuthor(s): Francesco Motolese, Mariagrazia Rossi, Emma Gangemi, Anna Bersano, Emma Scelzo, Vincenzo Di Lazzaro, Fioravante CaponeAbstractCerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a common cause of inherited stroke in young adults. CADASIL ...

Looking for online definition of CADASIL or what CADASIL stands for? CADASIL is listed in the Worlds largest and most authoritative dictionary database of abbreviations and acronyms

Cadasil Together We Have Hope | Since 2005, we foster advocacy and open communication among all stakeholders as we work collaboratively to find a treatment or cure for CADASIL.

A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

10 June, 2018 7:00 AM Pratten Park, Old Burleigh Road, Broadbeach, Paul and I will be taking part in Memory Walk & Jog and we need your support! All donations will go towards Dementia Australias ability to provide vital support services, such as counselling, support groups and education to help family, carers and professional training in my area as well as raise awareness about CADASIL genetic vascular dementia.. ...

Head MRI - Evidence of disease consistent with CADASIL, and no evidence of another disease, which might account for cognitive impairment or dementia (as judged by the Investigator/physician at the site). (The latter may be determined with a CT head scan for eligibility purposes. The MRI would still be needed.) Must be obtained within 6 months of the Screening/Baseline visit. If no such head MRI had been previously obtained, a head MRI will be obtained as part of Screening/Baseline after all other inclusion and exclusion criteria (except clinical laboratory determinations) are satisfied. Patients in whom an MRI is contraindicated can have a CT instead, however, MRI is the preferred modality ...

TY - JOUR. T1 - Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation. AU - Chen, Chih Hao. AU - Tang, Sung Chun. AU - Cheng, Yu Wen. AU - Tsai, Hsin Hsi. AU - Chi, Nai Fang. AU - Sung, Pi Shan. AU - Yeh, Hsu Ling. AU - Lien, Li Ming. AU - Lin, Huey Juan. AU - Lee, Ming Jen. AU - Hu, Chaur Jong. AU - Chiou, Hung Yi. AU - Jeng, Jiann Shing. PY - 2019/7/1. Y1 - 2019/7/1. UR - http://www.scopus.com/inward/record.url?scp=85054825298&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=85054825298&partnerID=8YFLogxK. U2 - 10.1136/jnnp-2018-319268. DO - 10.1136/jnnp-2018-319268. M3 - Letter. C2 - 30309883. AN - SCOPUS:85054825298. VL - 90. SP - 841. EP - 843. JO - Journal of Neurology, Neurosurgery and Psychiatry. JF - Journal of Neurology, Neurosurgery and Psychiatry. SN - 0022-3050. IS - 7. ER - ...

Methods 25 NOTCH3 mutation carriers and 18 healthy controls were examined using high-resolution T2*-weighted imaging on a 7 T whole body MRI scanner. Susceptibility-weighted MRI scans were analysed for areas of signal loss and increased phase shift. Phase shift measurements in deep grey nuclei, cortex and subcortical white matter were compared between mutation carriers and controls. For confirmation, ex vivo brain specimens from another three patients with CADASIL were analysed for iron deposition using ex vivo MRI combined with iron histochemistry.. ...

目的报道一个以椎-基底动脉系统短暂性脑缺血发作为主要临床表现的常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)家族,探讨其临床、影像学以及基因和病理特点.方法先证者为中年女性,出现反复发作的头晕和智能减退.对其进行临床、电生理、影像学分析和腓肠神经病理检查,并调查其家族中其他成员的发病情况.家族中连续3代有7例发病,两性均累及,发病年龄在40～50岁之间,均反复出现头晕、卒中和痴呆,症状呈阶梯性加重.结果 MRI检查显示基底节、丘脑、脑桥、胼胝体及脑室旁白质出现多发腔隙性低密度灶,白质疏松,累及双侧颞极.腓肠神经活检发现小动脉壁平滑肌细胞变性,其表面出现大量的颗粒样嗜锇性物质沉积.Notch3基因检查显示R607C突变.结论 ...

This is the first case report of a CADASIL patient with MCA stenosis who underwent STA-MCA bypass to increase cerebral perfusion in the localized ischemic area. In CADASIL, reductions in both CBF and CVR occur in white matter showing T2-hyperintensity. It has been suggested that the degeneration of vascular smooth muscle cells causes arteriopathy, which leads to cerebral hypoperfusion and impaired autoregulation (Chabriat et al. 2000; Huang et al. 2010; Singhal and Markus 2005; van den Boom et al. 2003). Interestingly, the white-matter hyperintensity in the temporal lobe was found predominant in the left side in this case. This asymmetry of white-matter hyperintensity is very unusual rare in CADASIL, since it would suggest that these lesions do not originate from ischemia, but edema instead. The lower extent observed in the most hypoperfused temporal lobe further support that these lesions are not related to ischemia but mat actually result from edema with blood brain barrier dysfunction. ...

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CADASIL is one of the most common genetic causes of stroke and dementia. Currently there is no treatment for CADASIL. In this study, human stem cells will be generated from a piece of skin donated by patients with CADASIL. From these stem cells, smooth muscle cells (SMCs) will be generated in a tissue culture dish in the lab. ...

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL. Mazzei, R.; Guidetti, D.; Ungaro, C.; Conforti, F. L.; Muglia, M.; Cenacchi, G.; Lanza, P. L.; Patitucci, A.; Sprovieri, T.; Riguzzi, P.; Magariello, A.; Gabriele, A. L.; Citrigno, L.; Preda, P.; Quattrone, A. // Journal of Neurology, Neurosurgery & Psychiatry;Jan2008, Vol. 79 Issue 1, p108 A letter to the editor about the article First Evidence of a Pathogenic Insertion in the NOTCH3 gene Causing CADASIL is presented. ...

sometimes referred to as white matter because of its white, fatty appearance, protects and insulates the axons. It consists of a protective sheath of many different molecules that include both lipids (fatty molecules) and proteins. This protective sheath acts in a manner very similar to that of the protective insulation that surrounds an electric wire; that is, it is necessary for the rapid transmission of electrical signals between neurons. It does this primarily by containing the electrical molecules (called ions) within the axon so that they are properly transmitted to the next neuron ...

i dont see it listed as one of the topics may i ask why. i go through the internet and i see lots of questions about this disease i am one of those people. i have been to two doctors and they both th...

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Under heavy criticism for first ignoring this medical emergency and then putting the blame on the UP Government, the Centre has finally decided to act. The govt has set up a GoM headed by health minister Gulam Nabi Azad to come up with steps to deal with the crisis. But the question is - will a GOM actually help ...

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The robust machine housing contains all components of the ATOS ScanBox. As a 100 - 240 V power supply is used and the measuring system only weighs approx. 900 kg, it can be used for measuring in almost all premises. Four wheels enable the unproblematic repositioning of the ATOS ScanBox in the factory shop. The sliding door is designed in such a way that the ATOS ScanBox can be loaded with a crane. ...

The posterior spinal cord contains longer perforating arteries that might be more susceptible to the effects of CADASIL vasculopathy. This explains the clinical (predominantly dorsal column involvement and motor deficit) and imaging features compared with those in the more common anterior spinal cord infarction (predominantly spinothalamic tract involvement and motor deficit). The stepwise progression could be explained by sequential involvement of perforating spinal cord arteries. Her clinical improvement is likely attributable to the combination of corticosteroid-responsive peri-ischaemic inflammatory changes and natural recovery.. Spinal cord involvement in CADASIL is well recognised but rare. In a UK cohort of 200 patients, there were no cases of spinal cord infarction.1 An anterior spinal cord infarct occurred in an Irish patient with probable CADASIL who had a history of severe migrainous headaches.7 A cervical spinal cord MRI study showed no abnormalities in 25 symptomatic CADASIL ...

Dear Donor,. Thank you for visiting my fundraising page!. I am honored and privileged to have been given the opportunity to represent my Patient Partner with a Rare Disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy-CADASIL) and most importantly raise awareness/support of her condition. As you know, sympathy alone doesnt lead to cure rather funding research to find the cause is the only way. As part of the Running for Rare Diseases team, we are raising money to support NORD, the National Organization for Rare Disorders. Specifically, our funds are directed to the Genzyme/NORD NIH Undiagnosed Diseases Program (UDP) to help those who are undiagnosed pay for testing. With your help I strongly believe we can make a difference in peoples lives.. I truly appreciate your support and I will work hard to train and complete the Marathon in order to fulfill my obligation.. ...

BACKGROUND AND PURPOSE: Reaction time was recently recognized as a marker of subtle cognitive and behavioral alterations in the early clinical stages of CADASIL, a monogenic cerebral small-vessel disease. In unselected patients with CADASIL, brain atrophy and lacunes are the main imaging correlates of disease severity, but MR imaging correlates of reaction time in mildly affected patients are unknown. We hypothesized that reaction time is independently associated with the corpus callosum area in the early clinical stages of CADASIL. ...

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Expression of NOTCH3 (CADASIL, CASIL) in prostate tissue. Antibody staining with HPA044392 and CAB005393 in immunohistochemistry.

Expression of NOTCH3 (CADASIL, CASIL) in hippocampus tissue. Antibody staining with HPA044392 and CAB005393 in immunohistochemistry.

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3GOM: Structure determination of an intercalating ruthenium dipyridophenazine complex which kinks DNA by semiintercalation of a tetraazaphenanthrene ligand.

Microangiopathies may cause ischemic brain lesions and are of fundamental importance in vascular dementia. Risk factors include high age, hypertension, diabetes and Alzheimers disease. In addition, recent studies have focused on autosomal dominant types of arteriopathy causing leukoencephalopathy,psychiatric disturbances, stroke and dementia (CADASIL). This thesis concerns various collagens andbasal lamina components which are deposited in vascular walls of cases presenting cerebral microangiopathy. In addition, endothelin-like immunoreactivity has been studied in CADASIL cases andsome other brain diseases.. CADASIL cases described by Sourander and Wålinder (1977) were re-investigated. Those with longduration of the disease presented marked expression of fibrillary collagen types I, Ill, V and VI and of thebasal lamina components, collagen type IV and laminin. Deposits appeared also in non-familial casespresenting hyalinosis and in cases with the Binswanger type of leukoencephalopathy. Media ...

On-target drug delivery remains a challenge in cancer precision medicine; it is difficult to deliver a targeted therapy to cancer cells without incurring toxicity to normal tissues. The SERCA (sarco-endoplasmic reticulum Ca2+ ATPase) inhibitor thapsigargin inhibits mutant NOTCH1 receptors compared with wild type in T cell acute lymphoblastic leukemia (T-ALL), but its administration is predicted to be toxic in humans. Leveraging the addiction of ALL to folic acid, we conjugated folate to an alcohol derivative of thapsigargin via a cleavable ester linkage. JQ-FT is recognized by folate receptors on the plasma membrane and delivered into leukemia cells as a potent antileukemic agent. In mechanistic and translational models of T-ALL, we demonstrate NOTCH1 inhibition in vitro and in vivo. These proof-of-concept studies support the further optimization of this first-in-class NOTCH1 inhibitor with dual selectivity: leukemia over normal cells and NOTCH1 mutants over wild-type receptors. Furthermore, ...

I am supervisor for a research group, which right now consists of one PhD student, and three master students. My research is focused on understanding the molecular mechanism behind Alzheimer Disease with focused on Omi/HtrA2 protease and amyloid beta uptake, and focus on vascular smooth muscle cell degeneration and proliferation in CADASIL as well as small vessel diseases.. In addition to supervising, I am as a researcher involved in teaching at both the masters, advanced and doctoral level. Furthermore, I am organizer for PhD/PostDoc and Center for Alzheimer Research seminar series at NVS. This role gives me a lot of input and reflections to my own leadership style and also I learn to know PhD students at KI, which is a benefit for my research career.. I am representative for Equal treatment (Ombud for Lika Villkor) at NVS since 2011. Therefore, I am a member of department council and work environment council at NVS. This role also gives me the opportunity to be involved in many issues ...

Angiogenesis, a tightly regulated process of new blood vessel formation, is initiated when a select set of endothelial cells is stimulated to leave their quiescent state.1 These cells become hypermigratory and form sprouts that guide the direction of vascular network development.2 Formation of this ordered network depends on a regulated differentiation of the endothelial cells in which only specific endothelial cells can become sprouts. The consequence of dysregulation would be a failure to develop a cohesive vascular network. Examples of this can be seen in vascular diseases, such as CADASIL, and in tumor growth.3,4. Article, see p 1206. The vascular network forms when endothelial sprouts develop at the leading edge of the angiogenic front. These leading sprouts are known as the tip cells, characterized by filopodial expansions, which guide growth toward proangiogenic signals. Behind them are the stalk cells that provide a supporting network through proliferation and lumen formation. A critical ...

Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a novel,identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India. Clinical characteristics, cardiovascular findings, outcomes and molecular genetics of twenty-two infants from a distinct population subgroup,presenting with characteristic arterial dilatation and tortuosity during the period August 2004 to June 2011 were studied. Patients (11 males, 11 females) presented at median age of 1.5 months,belonging to unrelated families from identical ethno-geographical background; eight had a history of consanguinity. Cardiovascular features included aneurysmal dilatation, elongation, tortuosity and narrowing of the aorta, pulmonary artery and their branches. The phenotype included a variable combination of cutis laxa (52%), long philtrum-thin vermillion (90%),