The etiology of ischemic stroke is multifactorial. Although receiving less emphasis, genetic causes make a significant contribution to ischemic stroke genesis, especially in early-onset stroke. Several stroke classification systems based on genetic information corresponding to various stroke phenotypes were proposed. Twin and family history studies, as well as candidate gene approach, are common methods to discover genetic causes of stroke, however, both have their own limitations. Genome-wide association studies and next generation sequencing are more efficient, promising and increasingly used for daily diagnostics. Some monogenic disorders, despite covering only about 7% of stroke etiology, may cause well-known clinical manifestations that include stroke. Polygenic disorders are more frequent, causing about 38% of all ischemic strokes, and their identification is a rapidly developing field of modern stroke genetics. Current advances in human genetics provide opportunity for personalized prevention of stroke and novel treatment possibilities. Genetic risk scores (GRS) and extended polygenic risk scores (PRS) estimate cumulative contribution of known genetic factors to a specific outcome of stroke. Combining those scores with clinical information and risk factor profiles might result in better primary stroke prevention. Some authors encourage the use of stroke gene panels for stroke risk evaluation and further stroke research. Moreover, new biomarkers for stroke genetic causes and novel targets for gene therapy are on the horizon. In this article, we summarize the latest evidence and perspectives of ischemic stroke genetics that could be of interest to the practitioner and useful for day-to-day clinical work.

Intracerebral hemorrhage (ICH) is a devastating type of stroke, frequently resulting in unfavorable functional outcomes. Up to 15% of stroke patients experience ICH and approximately half of those have a lethal outcome within a year. Considering the huge burden of ICH, timely prevention and optimized treatment strategies are particularly relevant. Nevertheless, ICH management options are quite limited, despite thorough research. More and more trials highlight the importance of the genetic component in the pathogenesis of ICH. Apart from distinct monogenic disorders of familial character, mostly occurring in younger subjects, there are numerous polygenic risk factors, such as hypertension, neurovascular inflammation, disorders of lipid metabolism and coagulation cascade, and small vessel disease. In this paper we describe gene-related ICH types and underlying mechanisms. We also briefly discuss the emerging treatment options and possible clinical relevance of the genetic findings in ICH management. Although existing data seems of more theoretical and scientific value so far, a growing body of evidence, combined with rapidly evolving experimental research, will probably serve clinicians in the future.

The impact of COVID-19 lockdown on prehospital stroke care is largely unknown. We aimed to compare stroke care patterns before and during a state-wide lockdown. Thus, we analysed prospective data of stroke alerts referred to our stroke centre between 1 December 2019 and 16 June 2020, and compared them between two periods—15 weeks before and 13 weeks during the state-wide lockdown declared in Lithuania on 16 March 2020. Among 719 referrals for suspected stroke, there was a decrease in stroke alerts (rate ratio 0.61, 95% CI (0.52–0.71)), stroke admissions (0.63, 95% CI (0.52–0.76)), and decrease in prehospital stroke triage quality (positive predictive value 72.1% vs. 79.9%, p = 0.042) during the lockdown. The onset-to-door time was longer (153.0 vs. 120.5 min, p = 0.049) and seizures and intracranial tumours were more common among stroke mimics (16.9% vs. 6.7%, p = 0.012 and 9.6% vs. 3.0%, p = 0.037, respectively). We conclude that there was a decline in prehospital stroke triage quality during the lockdown despite low COVID-19 incidence in the country. Moreover, we observed an increase in hospital arrival delays and severe conditions presenting as stroke mimics. Our findings suggest that improved strategies are required to maintain optimal neurological care during public health emergencies.

Inflammatory disorders of the central nervous system (CNS) vessels, also called CNS vasculitides, can cause substantial disability or even be fatal. Inflammation of the CNS vessels can be caused by primary angiitis of the CNS (PACNS), inflammatory cerebral amyloid angiopathy, or systemic inflammatory disorders. Clinical symptoms of these disorders are often non-specific, such as encephalopathy, cognitive and affective abnormalities, headache and focal neurological symptoms. Diagnostic workup includes a thorough neuropsychiatric examination, blood and cerebrospinal fluid analysis and magnetic resonance imaging (MRI) of the brain and its vessels. Biopsy of the brain remains the gold standard diagnostic test. Timely diagnosis and treatment initiation is of high importance, as it might prevent severe complications, such as ischemic and hemorrhagic stroke. In this review, we describe the specific characteristics of primary and secondary non-infectious CNS vasculitides which help to establish the diagnosis, discuss the peculiarities of the diagnostic workup and present current treatment recommendations.

Stroke is one of the main causes of death and disability worldwide. Nevertheless, despite the global burden of this disease, our understanding is limited and there is still a lack of highly efficient etiopathology-based treatment. It is partly due to the complexity and heterogenicity of the disease. It is estimated that around one-third of ischemic stroke is heritable, emphasizing the importance of genetic factors identification and targeting for therapeutic purposes. In this review, the authors provide an overview of the current knowledge of stroke genetics and its value in diagnostics, personalized treatment, and prognostication. As the scale of genetic testing increases and the cost decreases, integration of genetic data into clinical practice is inevitable, enabling assessing individual risk, providing personalized prognostic models and identifying new therapeutic targets and biomarkers. Although expanding stroke genetics data provides different diagnostics and treatment perspectives, there are some limitations and challenges to face. One of them is the threat of health disparities as non-European populations are underrepresented in genetic datasets. Finally, a deeper understanding of underlying mechanisms of potential targets is still lacking, delaying the application of novel therapies into routine clinical practice.

Background. Reperfusion treatment (RT) is administered to individuals with posterior circulation strokes (PCS) later and less frequently. We aimed to study the impact of demographic and clinical factors on the decision for RT in PCS. Methods. We conducted a retrospective analysis of the data from 500 subjects admitted to the tertiary stroke centre’s emergency department between 2018 and 2020 due to PCS. Demographic and clinical factors were analysed among three groups: the RT group, the group with no RT because of absolute contraindications (ACI), and the group with no RT because of relative contraindications (RCI). Results. Of the patients, 202 (40.3%) were female. The median NIHSS was four (4), and the subjects’ median age was 69 (18). RT was performed on 120 (24%) subjects. FAST symptoms (OR—5.62, 95% CI [2.90–12.28]) and higher NIHSS (OR—1.13, 95% CI [1.09–1.18]) at presentation, atrial fibrillation (OR—1.56, 95% CI [1.02–2.38]), hypertension (OR—2.19, 95% CI [1.17–4.53]) and diabetes (OR—1.70, 95% CI [1.06–2.71]) increased the chance of RT. Late arrival was the most prevalent ACI for 291 (58.2%) patients. FAST-negative subjects (OR—2.92, 95% CI [1.84–4.77]) and males (OR—1.58, 95% CI [1.11–2.28]) had a higher risk of arriving late. Because of RCI, 50 (10%) subjects did not receive RT; the majority were above 80 and had NIHSS ≤ 5. Subjects with RCI who received the RT had a higher NIHSS (4 vs. 3, p < 0.001), higher hypertension (59 (92.2%) vs. 35 (77.8%), p = 0.032) and heart failure (23 (35.9%) vs. 7 (15.6%), p = 0.018) prevalence. There was a trend for less RT in females with RCI. Conclusions. Late arrival was the most common barrier to RT, and the male gender increased this risk. because of relative contraindications, 10% of subjects were not considered for RT. The presence of FAST symptoms, vascular risk factors, and a higher NIHSS increased the chance of RT.