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The article describes a case of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) in a 35 year-old Pakistani woman who experienced acute leg weakness. Topics discussed include the patient's novel mutation and its impact on protease activity, an overview of her medical history, and details of the findings of her neurological examination.

Cortical superficial siderosis (cSS) is a magnetic resonance imaging marker of cerebral amyloid angiopathy (CAA) and can be its sole imaging sign. cSS has further been identified as a risk marker for future intracranial hemorrhage. Although uncommon in the general population, cSS may be much more prevalent in high risk populations for amyloid pathology. We aimed to determine the frequency of cSS in patients with cognitive impairment presenting to a memory clinic. We prospectively evaluated consecutive patients presenting to our memory clinic between April 2011 and April 2013. Subjects received neuropsychological testing using the Consortium to Establish a Registry for Alzheimer's Disease battery (CERAD-NP). Two hundred and twelve patients with documented cognitive impairment further underwent a standardized 3T-MR-imaging protocol with T2*-weighted gradient-echo sequences for detection of cSS. Thirteen of 212 patients (6.1 %) displayed cSS. In seven of them (54 %) cSS was the only imaging sign of CAA. Patients with cSS did not differ from patients without cSS with regard to medical history, age or cardiovascular risk profile. Subjects with cSS performed worse in the mini-mental state examination ( p = 0.001), showed more white matter hyperintensities ( p = 0.005) and more often had microbleeds ( p = 0.001) compared to those without cSS. cSS is common in patients with cognitive impairment. It is associated with lower cognitive scores, white matter hyperintensities and microbleeds and can be the only imaging sign for CAA in this patient group. [ABSTRACT FROM AUTHOR]

Supratentorial superficial siderosis (SS) is a frequent imaging marker of cerebral amyloid angiopathy (CAA). It is most probably caused by focal subarachnoid hemorrhages (fSAHs). Based on single-case observations, it has been proposed that such fSAHs might be a predisposing factor for future intracranial hemorrhage. Here we tested the hypothesis if a SS as a residue of fSAHs must be regarded as a warning sign for future intracranial hemorrhage. Fifty-one consecutive patients with SS and no apparent cause other than possible or probable CAA were identified through a database search and followed-up for a median interval of 35.3 months (range 6-120 months). Main outcome measures were rate and location of new intracranial hemorrhages. Twenty-four patients (47.1 %) had experienced any new intracranial hemorrhage, 18 patients (35.3 %) had an intracerebral hemorrhage (ICH), and in 13 of them (25.5 %), the hemorrhage was located at the site of pre-existing siderosis. Six patients (11.7 %) had developed a new subarachnoid hemorrhage (SAH), four of them at the site of siderosis. Patients with SS are at substantial risk for subsequent intracranial hemorrhage. SS can be considered a warning sign of future ICH or SAH, which frequently occur adjacent to pre-existing SS. Prospective studies are needed to confirm these findings. [ABSTRACT FROM AUTHOR]

Deep cerebral venous system thrombosis (DCVST) is a rare variety of cerebral vein and sinus thrombosis (CVST), therefore clinical information regarding presentation, course and outcome are limited. In this two-center study including 32 patients, we tried to better define symptoms, neuroradiological findings, course, and outcome in DCVST. All consecutive patients with DCVST admitted to our two institutions over a period of more than 10 years were identified from prospective registries on CVST and stroke patients. Data from the registries were confirmed and complemented by retrospective analysis of patients’ charts and neuroradiological imaging. Only patients with an unequivocal diagnosis of DCVST confirmed by MRI and MRA were included. Information on long-term functional outcome (modified Rankin Scale, mRS; ability to return to work) was obtained by telephone interviews performed between 2006 and 2008. The clinical presentation was highly variable with headache (81%) and reduced consciousness (72%) as the most frequent symptoms. In nine patients (28%) thrombosis was confined to the deep venous system (isolated DCVST). In the remaining patients other sinuses and/or cortical veins were additionally affected (non-isolated DCVST). Diagnosis was made within one to 76 days (mean = 10.0 ± 14.1 days) but was significantly delayed in patients with isolated compared to non-isolated DCVST (19.1 ± 23.0 vs. 6.3 ± 6.5 days, P = 0.02). Thalamic edema was the most frequent parenchymal MRI finding present in 69% of patients, bilateral in 47%. d-dimer levels were normal in 13% of patients. Most patients (75%) stabilized and later improved on intravenous heparin or subcutaneous low molecular weight heparin. Eight (25%) patients deteriorated with progressing coma; six of them received local endovascular therapy but two died. After a mean follow-up of 3.8 years (range 3 months–13 years), 26 patients (81%) were functionally independent (mRS ≤ 2) including 24 patients (75%) with a mRS ≤ 1 of whom 23 (96%) returned to their previous job, activity or education. No patients were severely disabled (mRS 4–5). Extension of thrombosis beyond the deep venous system had no effect on outcome. Due to its variable clinical presentation the diagnosis of DCVST is often difficult and heparin treatment therefore established with substantial delay. While most patients stabilize and have a good recovery, progressing coma associated with poor outcome is seen in a subset of patients who may thus require other treatment options, such as endovascular therapy. [ABSTRACT FROM AUTHOR]

Cortical ischemic stroke affecting the precentral “hand knob” area is a rare but well known stroke entity. To date, little is known about the underlying stroke mechanisms and the prognosis. Twenty-nine patients admitted to our service between 2003 and 2007 were included in the study on the basis of an acute ischemic infarct of the cortical “hand knob” area confirmed by diffusion-weighted magnetic resonance imaging with contralateral hand paresis. For all patients clinical, epidemiological as well as imaging data at the time point of admission were analysed retrospectively and follow-up data on all patients was obtained. The majority ( n = 21/72%) had an isolated infarct of the cortical “hand knob” area. In 23 (79%) patients it was a first ever stroke. Ten patients (34%) had ipsilateral extracranial stenosis of the internal carotid artery (ICA), whereas potential cardiac embolic sources were less frequent ( n = 4/14%). No patient exhibited ipsilateral MCA stenosis. All but two patients (93%) had marked atherosclerotic alterations of the ICA. Hypertension was the most prevalent vascular risk factor ( n = 23/79%). At follow-up (mean 25.0 months, range 0.4–47.4 months) no patient had died and only one (3%) experienced a recurrent stroke. The majority of patients (79%) reported improvement of hand paresis, 17 (59%) were asymptomatic (modified Rankin score = 0). Only one patient was significantly disabled due to a recurrent stroke. In conclusion, ischemic infarcts affecting the cortical “hand knob” area are frequently associated with atherosclerotic changes of the carotid artery, suggesting an arterio-arterial thrombembolic stroke mechanism. It mostly reflects first ever ischemic stroke, and follow-up data suggest a rather benign course. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented related to intravitreal bevacizumab treatment for cerebroretinal vasculopathy.