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Brain MRI correlations with disease burden and biomarkers in Fabry disease
ConclusionBrain MRI revealed progressive lacunar infarctions, white matter hyperintensities, and decreased brain volume in patients with Fabry disease. Brain MRI lesions were closely related to onset-age; disease duration, severity, burden; and plasma  Lyso-Gb3. However, they were not associated with sex, α-galactosidase A activity, orGLA mutation type.
Source: Journal of Neurology - September 20, 2023 Category: Neurology Source Type: research

Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
ConclusionGenetic screening for Fabry ’s disease in cardioembolic and lacunar stroke as well as CADASIL in lacunar stroke might be beneficial in routine medical work-up of acute juvenile ischemic stroke.
Source: Journal of Neurology - February 28, 2023 Category: Neurology Source Type: research

A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
ConclusionsCARASAL should be considered in patients with early onset or severe cerebral small vessel disease, particularly where there are prominent symptoms or signs related to brainstem involvement, such as hearing dysfunction, tinnitus or dysphagia or where there is significant thalamic and brainstem involvement on imaging.
Source: Journal of Neurology - October 31, 2022 Category: Neurology Source Type: research

Pre-procedural predictive factors of symptomatic intracranial hemorrhage after thrombectomy in stroke
ConclusionsICH after MT was associated with several pre-procedural risk factors: prior use of antiplatelet therapies, high C-reactive protein and hyperglycemia at baseline, elevated mean arterial blood pressure, and low ASPECTS.
Source: Journal of Neurology - January 3, 2021 Category: Neurology Source Type: research

Mechanical thrombectomy for ischaemic stroke in the anterior circulation: off-hours effect
ConclusionOur study did not show worse outcomes in patients treated at off-hours. This result suggests that the off-hours effect reported in other studies can be minimized by a coordinated organisation of stroke care providing similar levels of care at off-hours.
Source: Journal of Neurology - May 27, 2020 Category: Neurology Source Type: research

Detailed phenotyping of posterior vs. anterior circulation ischemic stroke: a multi-center MRI study
ConclusionIschemic stroke subtypes differ between the two phenotypes. Diabetes and male sex have a stronger association with PCiS than ACiS. Definitive MRI-based PCiS diagnosis aids etiological investigation and contributes additional insights into specific risk factors and mechanisms of injury in PCiS.
Source: Journal of Neurology - November 10, 2019 Category: Neurology Source Type: research

White matter burden does not influence the outcome of mechanical thrombectomy
ConclusionsWMHs burden does not seem to influence clinical outcome and imaging parameters in patients treated by MT.
Source: Journal of Neurology - November 7, 2019 Category: Neurology Source Type: research

Moyamoya angiopathy: early postoperative course within 3 months after STA –MCA–bypass surgery in Europe—a retrospective analysis of 64 procedures
ConclusionRevasculating surgery is a safe procedure in Caucasian patients with Moyamoya angiopathy. The observed complications have a good prognosis.
Source: Journal of Neurology - October 1, 2018 Category: Neurology Source Type: research

Predicting functional outcomes of posterior circulation acute ischemic stroke in first 36  h of stroke onset
In conclusion, both the PC-ASPECTS and NIHSS help clinicians predict functional outcomes. PC-ASPECTS >  7 is a helpful discriminator for achieving favorable functional outcome prediction in posterior circulation acute ischemic stroke.
Source: Journal of Neurology - February 17, 2018 Category: Neurology Source Type: research

Thalamic transitory ischemic attacks presenting as Jacksonian sensory march
We report on three cases in which these symptoms were caused by thalamic ischemia. Two patients presented with stereotypically recurring hemiparesthesias lasting 2 –5 min that gradually spread from the face to the arm and leg on one side. A first cerebral magnetic resonance imaging including DWI was negative in both cases, whereas new thalamic infarctions appeared on repeated imaging when clinical symptoms remained. A third case with a thalamic ischemia did not show recurring events, but also presented with purely sensory spreading symptoms. In all three cases EEG and cardiovascular diagnostics revealed normal results. ...
Source: Journal of Neurology - September 11, 2017 Category: Neurology Source Type: research