Acute Cerebrovascular Disease in the Young

Background and Purpose— Strokes have especially devastating implications if they occur early in life; however, only limited information exists on the characteristics of acute cerebrovascular disease in young adults. Although risk factors and manifestation of atherosclerosis are commonly associated with stroke in the elderly, recent data suggests different causes for stroke in the young. We initiated the prospective, multinational European study Stroke in Young Fabry Patients (sifap) to characterize a cohort of young stroke patients. Methods— Overall, 5023 patients aged 18 to 55 years with the diagnosis of ischemic stroke (3396), hemorrhagic stroke (271), transient ischemic attack (1071) we…

Basilar Artery Diameter Is a Potential Screening Tool for Fabry Disease in Young Stroke Patients

<i>Background:</i> Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young stroke patients. The aim of this study was to compare BADs of young stroke patients without FD to those of FD patients and of healthy age-matched controls. <i>Methods:</i> BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FD patients (aged 36.5 ± 11.0 years), 26 non-FD stroke patients and 20 healthy controls. <i>Results:</i&g…

Heisenberg Exchange and Dzyaloshinskii–Moriya Interaction in Ultrathin Pt(W)/CoFeB Single and Multilayers

We present results of the analysis of Brillouin light-scattering (BLS) measurements of spin waves performed on ultrathin single and multirepeat CoFeB layers with adjacent heavy metal layers. From a detailed study of the spin-wave dispersion relation, we independently extract the Heisenberg exchange interaction (also referred to as symmetric exchange interaction), the Dzyaloshinskii–Moriya interaction (DMI, also referred to as antisymmetric exchange interaction), and the anisotropy field. We find a large DMI in CoFeB thin films adjacent to a Pt layer and nearly vanishing DMI for CoFeB films adjacent to a W layer. Furthermore, the influence of the dipolar interaction on the dispersion relatio…

Enhanced thermally-activated skyrmion diffusion in synthetic antiferromagnetic systems with tunable effective topological charge

Magnetic skyrmions, topologically-stabilized spin textures that emerge in particular magnetic systems, have attracted attention due to a variety of electromagnetic responses that are governed by the topology. A well-studied effect of topology on the deterministic and drift motion under a nonequilibrium excitation is the so-called skyrmion Hall effect. For stochastic diffusive motion, the effect of topology is expected to have a drastically stronger impact, but the predicted even qualitative impact has not been demonstrated. The required tuning of the topology to achieve zero effective topological charge can be achieved using antiferromagnetic skyrmions. However, the diffusive motion has pre…

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…

Early access experience with VPRIV®: Recommendations for ‘core data’ collection

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study

Background:  Early occurrence of small-fibre neuropathy (SFN) is a common feature of Fabry disease (FD) – an X-linked storage disorder caused by reduced activity of the α-galactosidase A (α-GAL). Although SFN may result from different disorders, the cause is often unclear. Therefore, we investigated the frequency of FD in patients with SFN of unknown aetiology. Methods:  Patients with idiopathic SFN, established by sensory quantitative testing and/or skin biopsy, were examined for mutations in the α-GAL gene. Where mutations in the α-GAL gene were identified, levels of globotriaosylceramide (Gb3) were measured in urine and blood and the α-GAL activity was evaluated. When new mutations were …