A Collet-Sicard syndrome due to internal carotid artery dissection associated with cerebral amyloid angiopathy-related inflammation.

BACKGROUND: Cerebral amyloid angiopathy-related inflammation is a rare condition with approximately 100 reported cases. Its clinical manifestations are varied. We report here a novel presentation of this disease. CASE PRESENTATION: A 61-year-old Caucasian man presented with rapidly progressive paralysis of the IX, X, XI and XII right cranial nerves associated with right central facial nerve palsy. Brain computed tomography angiography and cerebral catheter angiography found a focal fusiform enlargement of the distal cervical portion of the right internal carotid artery, related to a pseudo-aneurysm suggesting an evolution of a dissection and intra-cranial vessel dysplasia. Brain magnetic resonance imaging showed multiple asymmetrical subcortical regions of hyperintensity on T2 fluid-attenuated inversion recovery sequences. Punctiform cortical hyposignals on T2-weighted gradient echo magnetic resonance imaging sequences were mostly congruent with the white matter hyperintensities. There was a decreased cerebral perfusion at the frontal hyperintense fluid-attenuated inversion recovery region. Spectrometry identified a lactate-lipid peak. A brain biopsy showed intravascular amyloid deposits. Corticosteroid therapy was initiated, leading to a dramatic improvement of both clinical condition and magnetic resonance imaging brain lesions. CONCLUSION: This case report suggests that extra-cranial vasculitis and dysplasia can exceptionally be found in patients satisfying cerebral amyloid angiopathy-related inflammation criteria.

Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study.

The efficacy of intravenous immunoglobulins (IVIg) in patients with autoimmune diseases (AID) has been known for several decades. Majority of these patients received IVIg in hospital. A retrospective study was conducted in 22 centers in France to evaluate the feasibility of the administration of Tegeline, an IVIg from LFB Biomedicaments, and assess its safety at home, compared to in hospital, in patients with AID. The included patients were at least 18 years old, suffering from AID, and treated with at least 1 cycle of Tegeline at home after receiving 3 consecutive cycles of hospital-based treatment with Tegeline at a dose between 1 and 2 g/kg/cycle. Forty-six patients with AID, in most cases immune-mediated neuropathies, received a total of 138 cycles of Tegeline in hospital and then 323 at home. Forty-five drug-related adverse events occurred in 17 patients who received their cycles at home compared to 24 adverse events in hospital in 15 patients. Serious adverse events occurred in 3 patients during home treatment, but they were not life-threatening and did not lead to discontinuation of Tegeline. Forty-five patients continued their treatment with Tegeline at home or in hospital; 39 (84.8%) were still receiving home treatment at the end of the study. In conclusion, the study demonstrates the good safety profile of Tegeline administered at home at high doses in patients with AID who are eligible for home administration of Tegeline.

Stroke with atrial fibrillation or atrial flutter: a descriptive population-based study from the Brest stroke registry.

BACKGROUND: In the 1990s, epidemiological studies estimated the prevalence of stroke caused by atrial fibrillation (AF) at about 15 %. Given the aging population, there is a rise in the number of AF patients. AF prevention guidelines based on clinical practice and the literature have been published and updated since 2001. Implementation seems to have an impact on the prescription of vitamin K antagonist (VKA). During the last 20 years, few population-based studies have focused on the prevalence of atrial arrhythmia (AA) in patients with stroke. The objective of the present prospective study, using data from 2008, was to evaluate the prevalence of AA (atrial fibrillation/flutter) in patients with stroke and the impact of implementing AF guidelines. METHODS: The prevalence of AA was studied in patients diagnosed with stroke from January 1 to December 31, 2008 in the population-based Stroke Registry of Brest, France (total population, 363,760 according to the 2008 census, with 295,553 aged 15 years or older). Guidelines implementation was assessed in terms of antithrombotic therapy (VKA, antiplatelet agent, none), and the CHADS2 (Congestive heart failure, Hypertension, Age > 75 years, Diabetes mellitus, and prior Stroke or transient ischemic attack). RESULTS: 851 cases of stroke were identified. The prevalence of AA was 31.7 % (n = 264), and increased with age from < 20 % in patients aged 45 to 54 years to nearly 50 % in patients ≥ 85 years. In patients with AA, 231 strokes were ischemic, 28 hemorrhagic and 5 undetermined. At time of stroke, AA was known in 207 patients (78.4 %). 54 of the 152 patients with CHADS2 score ≥ 2 (35.5 %) were treated with VKA; this proportion decreased with age: 50 % between 50 and 74 years, 43.8 % between 75 and 84 years, and 25 % at 85 years and older. CONCLUSION: The prevalence of AA in the population-based Brest Stroke Registry in 2008 was higher than that reported by studies conducted 20 years ago. Despite publication of AF prevention guidelines, VKA prescription and use in elderly patients were significantly low.

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

We describe the biological consequences on PSEN1 exons 8 or 9 splicing and Abeta peptides production of four PSEN1 mutations associated with a phenotypic variant of Alzheimer disease, which includes cotton wool plaques and spastic paraparesis (CWP/SP). Two of these mutations (c.869-22_869-23ins18 and c.871A > C, p.T291P) are novel mutations located in intron 8 and exon 9, respectively. The c.869-22_869-23ins18 mutation caused exon 9 skipping whereas the c.871A > C (p.T291P) mutation showed only a modest effect on exon 9 skipping. The previously reported E280G and P264L mutations, located in exon 8, had no effect on mRNA splicing. Infection of cells with mutant T291P, E280G, or P264L cDNAs caused a variable increase in secreted Abeta42. We conclude that none of the previously proposed mechanisms, i.e. exceptionally large increases in secreted Abeta42 levels or loss of PSEN1 exons 8 or 9, provides complete explanation of the CWP/SP phenotype.

Concordance rate differences of 3 noninvasive imaging techniques to measure carotid stenosis in clinical routine practice: results of the CARMEDAS multicenter study.

BACKGROUND AND PURPOSE: To replace digital subtraction angiography (DSA) in carotid stenosis evaluation, noninvasive imaging techniques have to reach a high concordance rate. Our purpose is to compare the concordance rates of contrast-enhanced MR angiography (CEMRA) and CT angiography (CTA) with Doppler ultrasound (DUS) in clinical routine practice. METHODS: We evaluated prospectively with DUS, CEMRA, and CTA 150 patients suspected of carotid stenosis. The overall concordance rates of the 3 techniques were calculated for symptomatic stenosis > or =50% and > or =70%, for asymptomatic stenosis > or =60%, and for occlusion. For the carotid arteries treated by surgery (n=97), the results of each method and combined techniques were recorded, and misclassification rates were evaluated from surgical reports. RESULTS: The overall concordance rates of DUS-CEMRA, DUS-CTA, and CEMRA-CTA were not statistically different. However, the concordance rate of DUS-CEMRA (92.53%) was significantly higher than that for DUS-CTA (79.10%) in the surgical asymptomatic stenosis group (P=0.0258). CTA considered alone would misclassify the stenosis in a significant number of cases (11 of 64) in the surgical asymptomatic group compared with CEMRA (3 of 67) and DUS (1 of 66) (P=0.0186 versus MRA, P=0.0020 versus DUS). CONCLUSIONS: With the techniques as utilized in our study, the overall concordance rates of combined noninvasive methods are similar for measuring carotid stenosis in clinical routine practice, but in asymptomatic carotid stenosis, the decision making for surgery is significantly altered if DUS and CTA are considered in place of DUS and CEMRA.