Functional magnetic resonance imaging with encoding task in patients with mild cognitive impairment and different severity of leukoaraiosis.

Leukoaraiosis is one of the main contributors to mild cognitive impairment due to vascular damage (vascular MCI, VMCI), whose pathophysiology has not been fully elucidated yet. We aimed to shed light on such issue using functional MRI (fMRI). Sixteen patients with VMCI were enrolled and compared with twenty-five patients with MCI but without significant vascular damage (non-vascular MCI, NVMCI) and with fifteen healthy controls (HC). They all underwent fMRI with incidental verbal learning paradigm, using a 3T scanner. Differently from cases with NVMCI (versus HC), VMCI patients presented a higher BOLD activation in the right parieto-occipital cortex and a lower activation in the left superior and middle frontal gyri, anterior cingulum and in left fronto-opercular area when compared to HC. Cortical activation evaluated by fMRI may reflect specific patterns of damage and attempt of compensation in patients with MCI and different severity of leukoaraiosis.

Genetics of ischaemic stroke in young adults.

BACKGROUND: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. SCOPE OF REVIEW: Here we review the single-gene causes of ischemic stroke, bringing the reader from the candidate gene method toward the exciting new horizons of genetic technology. MAJOR CONCLUSIONS: The aetiological diagnosis of ischemic stroke in young adults is more complex than in the elderly. The identification of a genetic cause is important to provide appropriate counseling and to start a correct therapy, when available. The advent of GWAS technology, such as for other complex pathological conditions, has contributed enormously to the understanding of many of these genetic bases. For success large, well phenotyped case cohorts are required, and international collaborations are essential. GENERAL SIGNIFICANCE: This review focuses on the main causes of genetically-based ischemic stroke in young adults, often classified as indeterminate, investigating also the recent findings of the GWAS, in order to improve diagnostic and therapeutic management.

"Cardioembolic profile" in patients with ischemic stroke: data from the analysis of 1037 cases.

BACKGROUND: Basing on easily available clinical and instrumental data, we aimed to define an "atrial fibrillation profile" able to discriminate cases of stroke due to atrial fibrillation from cases due to atherothrombosis of large vessels or small-vessel disease. METHODS: A total of 1037 consecutive patients with ischemic stroke were enrolled. Cases with undetermined stroke, rare causes, and cardioembolic sources of emboli other than atrial fibrillation were excluded from further analysis. Thus, 653 patients were evaluated, dividing them into 2 groups for comparison (164 with stroke due to atrial fibrillation and 489 with atherothrombotic/lacunar stroke). Clinical, echocardiography, and neuroradiologic data were considered to characterize such groups. RESULTS: Atrial fibrillation and atherothrombotic-lacunar group presented a differential phenotypic profile. Binary multiple logistic regression identified age older than 75 years, female sex, left atrial dilation, cortical-subcortical cerebral index infarct, ischemic lesions in multiple vascular grounds, and spontaneous hemorrhagic transformation of brain infarction as significant predictors of cardioembolic stroke due to atrial fibrillation. CONCLUSIONS: A simple profile, based on commonly available data, seems suitable to characterize patients with stroke due to atrial fibrillation. If further validated, it may be useful to identify patients with undetermined stroke (or other well-defined causes of stroke) at high risk of being affected by undetected subclinical paroxysmal atrial fibrillation, prompting further diagnostic work-up and with potential therapeutic implication.

Cerebral sinus venous thrombosis: clinical and pathogenetic perspectives from Tuscany.

Cerebral sinus venous thrombosis (CSVT) is a rare condition representing the 0.5-1% of all stroke cases which can have serious consequences. Early diagnosis and complete screening for acquired or inherited risk factors is crucial for decreasing morbidity and mortality. We have investigated clinical and aetiological factors in an Italian cohort of 43 patients with cerebral sinus venous thrombosis. Common presentation complaints were headache (81.4%), focal signs (20.9%), vomiting (11.6%) and seizures (6.9%). Acquired or inherited conditions were observed in more than 80% of cases. The commonest aetiological factors were contraceptives (74.1% of women), congenital thrombophilia (34.9%), infections and dysthyroidism (16.3%), hyperhomocysteinemia (9.3%), migraine (11.6%), cranial trauma (9.3%) and chronic myeloproliferative diseases (11.6%). Outcome was favourable in more than 80% of patients. Early diagnosis and anticoagulant treatment may decrease mortality and/or morbidity rates related with CVST in these patients. Thrombophilic abnormalities, either inherited or acquired, are worthy to be widely investigated.

Transient ischemic attack in hereditary hemorrhagic telangiectasia.

Transient ischemic attack or ischemic stroke in hereditary hemorrhagic telangiectasia (HHT), a rare genetic disease, is frequent in clinical practice and often associated to pulmonary arteriovenous malformations (PAVMs), potentially determining paradoxical cerebral embolism. We describe the case of a 53-year-old woman with a previous history of recurrent epistaxis, admitted to our unit for a transient episode of diplopia and unbalance. Cerebrovascular screening showed the presence of a right to left shunt at saline contrast transcranial Doppler, related to 3 PAVMs detected by subsequent chest computed tomographic scan. Genetic screening evidenced deletion in endoglin gene (ENG), suggesting diagnosis of HHT type 1. Secondary cerebrovascular prevention with antithrombotic therapy was early stopped for the worsening of epistaxis. Neurologic symptoms are common in HHT, and saline contrast transcranial Doppler can be a reliable alternative to echocardiography for detection of right to left shunt commonly related to underlying PAVMs.

Periprocedural outcome for patients with carotid stenosis treated with endovascular therapy: a single center evaluation.

Endovascular procedures are a less invasive revascularization strategies than endoarterectomy for carotid stenosis, but to date Guidelines recommend surgery for a major periprocedural safety. Evidences come from randomized studies where operator's experience in endovascular group was not considered. We retrospectively evaluated 524 endovascular procedures (carotid angioplasty ± stenting, CAS) performed between 1996 and 2010 on 486 patients (mean age 71.3 ± 7.8 years) with symptomatic or asymptomatic carotid stenosis from a single center. We evaluated efficacy (residual stenosis ≤30 % after postprocedural angiography) and safety [minor (TIAs or myocardial infarcts) and major (stroke or death) complications in the first 30 days] of procedures and correlated them with the increasing experience of the operator. CAS was successful in 504/524 cases (96.2 %); unsuccessful procedures occurred more frequently in case of angioplasty alone rather than angioplasty and stenting (13/61, 21.3 % vs. 7/463, 1.5 %, OR 17.64, 95 % CI 6.69-46.06). 17/524 (3.2 %) CAS met the combined safety endpoint: stroke in 2.4 % and death in 0.8 %; the rate of disabling stroke/death was 1.6 %. Center experience was inversely related to the rate of stroke/death (R (2) = 0.9375), passing from 5.0 % after 100 CAS to 2.8 % after 500 CAS; for disabling stroke/death (R(2) = 0.9386), the rate was 4 % after 100 CAS and 1.6 % after 500 CAS. CAS is an effective and safe revascularization procedure in both symptomatic and asymptomatic patients, if effected in experienced centers. The use of carotid artery stenting than angioplasty alone and emboli protection devices can much more improve the previous considerations.

A case of recurrent basilar artery occlusion successfully treated with repeated intravascular procedures.

Basilar artery occlusion has a poor prognosis, but intra-arterial revascularization therapy has been shown to improve outcome. We report the case of a 32-year-old patient who suffered recurrent basilar artery occlusion and was successfully treated first with mechanical and pharmacological thrombolysis, then with stenting, in 2 separate angiographic sessions. An etiology of vascular dissection may account for the early postprocedural recurrence.