Related Experiment Video
Updated: Apr 30, 2026
07:56
Transient Middle Cerebral Artery Occlusion Model of Neonatal Stroke in P10 Rats
Published on: April 21, 2017
10.5K
Diagnosing Monogenic Stroke at Younger Age.
Andreea Ilinca1, Efthymia Kafantari1, Joel Wallenius1
1Department of Clinical Sciences Lund, Neurology, Lund University; Department of Neurology, Skåne University Hospital, Lund, Sweden (A.I., E.K., J.W., A.P., A.G.L.).
Stroke
|November 5, 2024
Summary
Whole genome sequencing in young stroke patients identified monogenic causes in 30% of cases. Careful interpretation of genetic data can improve early stroke diagnosis and treatment strategies.
Area of Science:
- Genetics
- Neurology
- Cardiology
Background:
- Monogenic conditions are increasingly recognized as causes of stroke.
- Identifying these genetic factors is crucial for early diagnosis and treatment in younger individuals.
Purpose of the Study:
- To enhance the diagnostic yield of monogenic stroke in patients under 56 years of age.
- To explore the utility of whole genome sequencing combined with gene panels for identifying stroke-related genetic variants.
Main Methods:
- Whole genome sequencing was performed on 50 probands under 56 years old with a first stroke episode.
- Patients were selected based on family history, absence of traditional risk factors, or presence of multiple stroke/dissection events.
- Genetic variants with a minor allele frequency <0.01 were assessed using stroke gene panels, followed by genotype-phenotype correlation.
Main Results:
- Clinically relevant genetic variants were identified in 15 out of 50 (30%) patients.
- A strong clinical correlation was established in 6 (12%) patients.
- High detection rates were observed in specific stroke subtypes: 80% for cardioembolic, 75% for intracerebral hemorrhage, and 39% for cryptogenic embolic stroke.
Conclusions:
- Clinical interpretation of whole genome sequencing data using specialized gene panels can effectively detect monogenic causes of early-onset stroke.
- This approach facilitates individualized patient follow-up and opens avenues for novel therapeutic interventions.
Related Concept Videos
01:29Stroke: Introduction and Types
55
A stroke is an acute neurological event caused by the sudden disruption of cerebral blood flow, leading to rapid loss of neuronal function. Neurons depend on continuous oxygen and glucose supply, so even brief interruptions can cause irreversible injury within minutes. Strokes are classified into ischemic and hemorrhagic types.Ischemic StrokeIschemic strokes are most common and occur due to arterial occlusion, depriving brain tissue of oxygen and nutrients. This leads to energy failure, ionic...
55
01:15Ischemic Stroke l: Introduction
44
Ischemic stroke is an acute cerebrovascular condition in which blood flow to a brain region is suddenly interrupted, leading to tissue infarction. Neurons depend on continuous oxygen and glucose supply, so even brief reductions in perfusion cause energy failure, ionic imbalance, and irreversible injury. Ischemic strokes are classified into thrombotic and embolic types based on their underlying mechanisms.Thrombotic MechanismsThrombotic stroke develops when a clot forms within a cerebral artery.
44
01:15Ischemic Stroke ll: Pathophysiology
54
An ischemic stroke occurs when a cerebral blood vessel becomes obstructed, most often by a thrombus or embolus, interrupting the delivery of oxygen and glucose to brain tissue. Because neurons rely on continuous aerobic metabolism, energy failure begins within minutes of reduced perfusion. The region receiving the least blood flow becomes the infarct core, an area of irreversible cellular death. Surrounding this core lies the penumbra, a zone of hypoperfused but still viable tissue that is...
54
01:17Hemorrhagic Stroke l: Introduction
20
A hemorrhagic stroke is an acute neurological event that occurs when a weakened cerebral blood vessel ruptures, allowing blood to accumulate within or around the brain. The sudden release of blood forms a focal hematoma that increases intracranial pressure, displaces neural tissue, and can obstruct cerebrospinal fluid pathways. These effects may be compounded by intraventricular extension of the hemorrhage, cerebral edema, or compression of adjacent structures, all of which contribute to...
20
01:29Hemorrhagic Stroke ll: Pathophysiology
30
A hemorrhagic stroke develops when a cerebral blood vessel ruptures, allowing blood to escape into the surrounding brain tissue, as in intracerebral hemorrhage (ICH), or into the subarachnoid space, as in subarachnoid hemorrhage (SAH). Because the skull is a rigid compartment, the sudden presence of extravascular blood rapidly increases intracranial pressure and compresses adjacent neural structures, leading to immediate tissue injury and impaired cerebral perfusion.Mass Effect and Primary...
30
01:26Transient Ischemic Attack l: Introduction
18
A transient ischemic attack (TIA) is a brief episode of neurological dysfunction caused by a temporary, focal reduction in cerebral blood flow. Although symptoms resemble those of an ischemic stroke, the interruption in perfusion is short-lived and does not cause permanent infarction. TIAs are clinically important because they often serve as early warning events for future stroke.Mechanisms of Transient Cerebral IschemiaTransient cerebral ischemia may arise through several mechanisms. One...
18