London, United Kingdom 2013 Poster Session Red Cerebrovasc Dis 2013; 35 (suppl 3)1-854 525 449 Small vessel stroke and white matter disease Is radiological evidence of small vessel disease on presentation associated with longer term re-covery from acute stroke? Analysis of a UK comprehensive stroke centre cohort T. Slater1, P. Tyrrell2, S. Hulme3, G. Potter4, A. Parry-Jones5 University of Manchester, Manchester, UNITED KINGDOM1, University of Manchester, Man-chester, UNITED KINGDOM2, University of Manchester, Manchester, UNITED KINGDOM3, Sal-ford Royal NHS Foundation Trust, Manchester, UNITED KINGDOM4, University of Manchester, Manchester, UNITED KINGDOM5 Background: Cerebral small vessel disease encompasses lacunar infarction and leukoaraiosis. Leu-koaraiosis is found on initial imaging in many acute stroke patients. We examined the association between leukoaraiosis at presentation and functional outcome, both in terms of disability and identi-fied patient needs, at 6 months post-stroke. Methods: Consecutive acute stroke patients admitted to our stroke centre over a 6 month period were identified. Premorbid health status, stroke severity and in-patient management were recorded for each patient. Leukoaraiosis was retrospectively assessed on admission CT imaging using the Age-Related White Matter Change scale. Binary logistic regression then tested the association of leukoaraiosis with disability or death (modified Rankin Scale mRS>2) and with patient needs (iden-tified by Greater Manchester Stroke Assessment Tool GM-SAT) at 6 months post-stroke. Results: 153 stroke patients were included with a 56.2% (n=86) follow-up (alive (n=55) or de-ceased (n=31)) at 6 months. Reasons for non follow-up included declined reviews, out of area pa-tients and data not collected. Leukoaraiosis was associated with disability. (Odds Ratio=1.16, 95% CI 1.02 to1.32.) Adjusted for age, stroke severity and premorbid health status this significance fell. (OR=1.24, 95% CI 0.99 to 1.54.) Functional outcome was available for 45.1% of survivors. In these patients, leukoaraiosis was also associated with impaired activities of daily living. (Adjusted OR=1.41, 95% CI 1.00 to 1.39.) Mortality was increased in patients within the top 50% of leukoara-iosis (Kaplan-Meier Analysis p=0.004). Conclusion: This study indicates that leukoaraiosis may impair recovery after stroke. A larger study may extract this independent influence from ist confounding variables of age, stroke severity and pre-morbid health. Increasingly needed for the NHS Commissioning Outcomes Framework, assess-ing functional outcome will remain difficult in such cohort studies. 450 Small vessel stroke and white matter disease Clinical, familial, and neuroimaging characteristics of “CADASIL-like” patients S. Nannucci1, F. Pescini2, S. Bianchi3, B. Bertaccini4, I. Donnini5, R. Valenti6, V. Rinnoci7, M.T. Dotti8, A. Federico9, D. Inzitari10, L. Pantoni11 Department of Neurological and Psychiatric Sciences, University of Florence, Florence, ITA-LY1, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, IT-ALY2, Department of Neurological and Behavioural Sciences, University of Siena, Siena, ITALY3, Department of Statistics “G. Parenti”, University of Florence, Florence, ITALY4, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, ITALY5, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, ITALY6, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, ITALY7, Department of Neurological and Behavioural Sciences, University of Siena, Siena, ITALY8, Department of Neuro-logical and Behavioural Sciences, University of Siena, Siena, ITALY9, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, ITALY10, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, ITALY11 Background: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an inherited disease caused by NOTCH3 gene mutations. Perform-ing NOTCH3 gene analysis in patients with suspicion of CADASIL, a considerable number of pa-tients results to be without pathogenic NOTCH3 mutations (“NOTCH3-negative” patients). Some of them present with a phenotype that closely resembles that of CADASIL (“CADASIL-like” pa-tients). Objective: To define the phenotype of “CADASIL-like” patients as part of an ongoing study aimed at characterizing them from the genetic point of view. Methods: During the years 2002-2012, we performed NOTCH3 gene analysis (exons 2-23) in 117 probands. To identify patients without NOTCH3 gene mutations who could be more specifically defined as “CADASIL-like”, we selected those with a score ≥15 on the recently developed CADASIL screening scale (Pescini et al., Stroke 2012;43:2871-2876). Results: We diagnosed CADASIL in 25 patients (21%). Applying the CA-DASIL scale on the remaining patients who had all data available, 34 patients (age 57.6 +/- 16.0 years) were defined as “CADASIL-like” and 34 (age 50.4 +/- 17.4 years) as “NOTCH3-negative”. Comparing clinical, familial, and neuroimaging features, some characteristics were significantly (p<0.05) more frequent in “CADASIL-like” patients: cognitive impairment (65 vs 27%), severe leukoencephalopathy (85 vs 44%), involvement of temporal pole (79 vs 29%) and external capsule (100 vs 21%), subcortical infarcts (91 vs 53%), and arterial hypertension (79 vs 56%). Conclusions: This is a first step to better characterize a group of patients with a “CADASIL-like” phenotype. This group of patients might be heterogeneous from the genetic point of view. The role of alterations of NOTCH3 gene on exons other than 2-23 or on introns, some of which are emerging also in our pa-tients, remains to be further assessed. Furthermore, other genes could be involved to cause a CADA-SIL- like phenotype.
Karger_ESC London_2013
To see the actual publication please follow the link above