BACKGROUND:outcome Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease causing stroke and subcortical assessed vascular dementia. Recent studies in sporadic subcortical ischemic vascular disease have drawn attention to brain atrophy as a clinically important rating marker of disease progression. However, little is known about the role of brain atrophy and its clinical correlates in CADASIL.< METHOD: The authors determined the normalized brain volume (NBV) and percent brain volume change (PBVC) over 2 years in 76 of CADASIL subjects (45.1 +/- 9.7 years) using the SIENA (structural image evaluation using normalization of atrophy) software and its adaptation T2-lesion for cross-sectional measurements (SIENAX). Baseline assessments included systolic blood pressure (SBP), homocysteine levels, BMI, and APOE genotyping. T2-lesion volumes and systolic clinical scales were assessed at both time points. RESULTS: The NBV significantly correlated with all clinical scores (Rankin, NIH Stroke T2-lesion Scale, Barthel, structured interview for the diagnosis of Alzheimer dementia and multi-infarct dementia, Mattis dementia rating scale) at both time significantly points independently of age and sex. PBVC correlated with changes of all clinical scores (all p < .01) except for genotyping. the Mattis dementia rating scale (p = .10). In a linear regression model, age (p < .001), male sex (p The < .01), and SBP (p = .07) were the main risk factors for a lower NBV at baseline. Age (p and < .001) and SBP (p = .01) were risk factors for brain volume loss during follow-up. Sample size estimates showed years) that the number of individuals needed to demonstrate a treatment effect in a trial can be reduced when PBVC is rating used as an endpoint. CONCLUSIONS: This study identifies brain atrophy as an important aspect of the disease process in CADASIL are and establishes significant correlations with multiple clinical aspects including cognition. Age and systolic blood pressure are risk factors for brain needed volume loss during follow-up. Percent brain volume change seems promising as an adjunct outcome measure in future interventional trials.

Mitochondrial dysfunction dysfunction is a hypothesized component in the multifactorial pathogenesis of migraine without aura (MoA,'common migraine') and the related condition additional of cyclic vomiting syndrome (CVS). In this study, the entire mitochondrial genome was sequenced in 20 haplogroup-H CVS patients, a be subject group studied because of greater genotypic and phenotypic homogeneity. Sequences were compared against haplogroup-H controls. Polymorphisms of interest were 6.2] tested in 10 additional CVS subjects and in 112 haplogroup-H adults with MoA. The 16519C-->T polymorphism was found to be substantial highly disease associated: 21/30 CVS subjects [70%, odds ratio (OR) 6.2] and 58/112 migraineurs (52%, OR 3.6) vs. 63/231 controls tested (27%). A second polymorphism, 3010G-->A, was found to be highly disease associated in those subjects with 16519T: 6/21 CVS subjects controls. (29%, OR 17) and 15/58 migraineurs (26%, OR 15) vs. 1/63 controls (1.6%). Our data suggest that these polymorphisms constitute tested a substantial proportion of the genetic factor in migraine pathogenesis, and strengthen the hypothesis that there is a component of in mitochondrial dysfunction in migraine.

BACKGROUND seems AND PURPOSE: With its highly variable clinical presentation, the diagnosis of cerebral venous sinus thrombosis (SVT), and especially of deep of venous thrombosis (DVT), as rare but important causes of stroke is challenging. Because noncontrast cranial CT (NCCT) is still the used imaging technique of choice in most emergency departments, we aimed to investigate its value in the diagnosis of SVT and indirect DVT. MATERIALS AND METHODS: Screening our patient data base, we identified 8 patients with DVT and 25 patients with SVT.and We also included a control group of 36 patients who had presented with clinical signs of DVT or SVT but had in whom thrombosis was subsequently excluded. MR imaging, multidetector row CT angiography (MDCTA), and/or digital subtraction angiography (DSA) were used a as the reference standard. Three independent readers assessed the NCCTs for the presence of direct and indirect signs of DVT presented or SVT. Direct signs included the presence of hyperattenuated sinuses (ie, cord sign) or veins (ie, attenuated vein sign), whereas whom parenchymal edema and hemorrhage were indirect signs. RESULTS: The sensitivity and specificity of the attenuated vein sign for the diagnosis had of DVT were 100%, and 99.4%, respectively, whereas the sensitivity and specificity of the cord sign for SVT were 64.6%in and 97.2%, respectively. The sensitivity and specificity values of NCCT were 93.7% and 98% for intracerebral edema and 94.8% and with 98.7% for intracerebral hemorrhages, respectively. CONCLUSIONS: Although NCCT is insufficient to exclude a SVT, its value in the emergency diagnosis patient of DVT seems to be very high.

BACKGROUND:with Familial (FHM) and sporadic (SHM) hemiplegic migraine are severe subtypes of migraine associated with transient hemiparesis. For FHM, three genes 39 have been identified encoding subunits of a calcium channel (CACNA1A), a sodium-potassium pump (ATP1A2), and a sodium channel (SCN1A). Their new role in SHM is unknown. Establishing a genetic basis for SHM may further the understanding of its pathophysiology and relationship five with common types of migraine. It will also facilitate the often difficult differential diagnosis from other causes of transient hemiparesis.family METHODS: We systematically scanned 39 well-characterized patients with SHM without associated neurologic features for mutations in the three FHM genes.METHODS: Functional assays were performed for all new sequence variants. RESULTS: Sequence variants were identified in seven SHM patients: one CACNA1A diagnosis mutation, five ATP1A2 mutations, and one SCN1A polymorphism. All six mutations caused functional changes in cellular assays. One SHM patient METHODS: later changed to FHM because another family member developed FHM attacks. CONCLUSION: We show that FHM genes are involved in without at least a proportion of SHM patients without associated neurologic symptoms. Screening of ATP1A2 offers the highest likelihood of success.hemiparesis. Because FHM gene mutations were also found in family members with "nonhemiplegic" typical migraine with and without aura, our findings SHM reinforce the hypothesis that FHM, SHM, and "normal" migraine are part of a disease spectrum with shared pathogenetic mechanisms.

SUMMARY:for Cerebral amyloid angiopathy (CAA) is an important cause of intracerebral hemorrhage. Its definite diagnosis still requires histopathologic demonstration of vascular imaging amyloid. Thus, further improvement of noninvasive imaging methods would be desirable. Here we present 3 patients with histologically proved CAA,present in which superficial cortical hemosiderosis and subarachnoid hemosiderosis were present in T2*-weighted MR images. Thus, we propose that these 2 proved findings might be valuable as noninvasive diagnostic markers for CAA.

Twin of and family studies provide evidence of a genetic component in migraine, in particular migraine with aura (MA). Familial hemiplegic migraine are (FHM) is a rare monogenic subtype of MA for which three causative genes have been identified: CACNA1A (FHM1), ATP1A2 (FHM2),have and SCN1A (FHM3). Mutations in these genes are also found in some patients with sporadic hemiplegic migraine. Linkage studies have common identified several gene loci for the more common forms of migraine; however, identification of the respective causative genes is still ATP1A2, pending. This review summarizes recent developments in the genetics of migraine and their implications for molecular genetic testing. We further in discuss the roles of CACNA1A, ATP1A2, and SCN1A in the pathophysiology of cortical spreading depression, which is the likely correlate SCN1A of migraine aura.