K Vahedi

..These results establish the need to complete sequencing analysis by a screening for deletions to ensure an accurate molecular diagnosis of EA2...

..A unique eye phenotype of elicited repetitive daily blindness (ERDB) has also been reported to be cosegregating with FHM in a single Swiss family...

..These data indicate that early decompressive hemicraniectomy should be considered and fully discussed with the relatives of selected patients with a malignant hemispheric infarction...

..To better delineate the clinical spectrum and the natural history of COL4A1 mutations, a newly defined genetic cause of small vessel disease including the brain and retina...

..There is no effective medical treatment of malignant middle cerebral artery (MCA) infarction. The purpose of this clinical trial was to assess the efficacy of early decompressive craniectomy in patients with malignant MCA infarction...

..We now report a patient with sporadic, recurrent ICHs and a novel COL4A1 mutation...

..COL4A1 encodes type IV collagen α1 chain, a crucial component of nearly all basement membrane including vasculature, renal glomerule and ocular structures...

..We studied the various clinical manifestations associated with mutations in CACNA1A in families with hemiplegic migraine with and without cerebellar signs...

..The exact role played by MRI white-matter abnormalities, a hallmark of the disease, in the severity of the clinical phenotype remains poorly understood...

..Our immunostaining technique is highly sensitive (96%) and specific (100%) for diagnosis of CADASIL...

..The patient had a gradually progressive occlusion of the middle cerebral artery, the distal internal carotid artery and finally the anterior cerebral artery ipsilateral to the sphenoid meningioma...

..So far seven loci have been reported and four different genes have been identified. Analysis of additional sporadic or familial cases is needed to better delineate the clinical and genetic spectrum of EA...

..The importance of this degenerative phenomenon in the pathophysiology of CADASIL requires further investigation...

..The treatment decision takes into account the results of radiological assessment, CRP level and the effects of the previous treatments...

..Although chronic ischemia is presumed to cause the tissue lesions, the pattern of perfusion abnormalities and hemodynamic reserve in CADASIL, particularly within the white matter, remains unknown...

..Chromosome 1-linked families differ from the ones linked to chromosome 19, because penetrance in those families is much lower, and in some of their members, epileptic seizures occur during severe migraine attacks...

..To set up a diagnostic test and to delineate the Notch3 domains involved in CADASIL., we undertook mutations analysis in this gene in a group of CADASIL patients...

..In CAA-related hemorrhages, amyloid deposits in the brain vessel walls mainly contain amyloid beta-protein (A-beta). Rarely other forms of amyloid substances have been reported in sporadic CAA-related hemorrhages...

..Biopsies of the temporal and carotid arteries showed large-vessel granulomatous arteritis, with features of both giant cell and Takayasu's arteritis...

..Hereditary retinal arteriolar tortuosity is a distinct, autosomal dominant condition characterized by retinal arteriolar tortuosity and recurrent retinal hemorrhages. This condition is known to affect only retinal vessels...

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..This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations...

..The relative preservation of the encoding process in episodic memory impairment, even in individuals with dementia, is noteworthy...

..In conclusion, plasma and lymphocyte EFA pattern remained in normal ranges without EFA deficiency with both lipid emulsions, despite a lower content of n-3 and n-6 series with the olive oil-based ILE...

..In malignant cerebral venous thrombosis (CVT) patients, emergency decompressive surgery has been suggested as a life-saving procedure. We report 12 patients with malignant CVT, among whom 8 underwent operation...

..To report clinical characteristics, angiographical findings and results of endovascular treatment of patients presenting with dural carotid-cavernous fistulas (DCCFs)...

..This article describes the pathophysiology, diagnostic methods and therapeutic options for intracranial hypertension after stroke, including medical and surgical management...

..This unusual association of primary and secondary orgasmic headache emphasises the need for a thorough diagnostic examination when the orgasmic headache differs from that of previous episodes or is associated with neurological symptoms...

..EA conditions are clinically and genetically heterogeneous. Seven types of EA have been reported so far but the majority of clinical cases result from two recognized entities...

..Osteoporosis was found in 67%, dependent of body mass index and age when IF occurred. In 56 patients on HPN, followed prospectively, changes in bone density were dependent on the duration of HPN; older patients had a higher increase...

..EA2 attacks are remarkably sensitive to acetazolamide, a carbonic anhydrase inhibitor. The effectiveness of acetazolamide in migraine prophylaxis is unknown...

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..This pictorial review presents the more and the less common pneumatosis intestinalis CT features in adult patients, with the aim of making the reader more familiar with this potentially misleading sign...

..To evaluate the safety and long-term efficacy of per-endoscopic hydrostatic balloon dilatation in a retrospective series of patients with Crohn's disease...

..The trials were ongoing when the pooled analysis was planned...

..We have identified mutations in CADASIL patients that cause serious disruption of this gene, indicating that Notch3 could be the defective protein in CADASIL patients...

..However, there was no reduction in mortality and there was, as in all other trials, a significant increase in the risk of symptomatic intracerebral hemorrhage (ICH)...

..We concluded that mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage, especially after environmental stress...

..This characteristic pattern may be related to the specific ultrastructural modifications related to Notch3 gene mutations involving smooth muscle cells in the microvasculature...