Related Experiment Video
Updated: Jun 14, 2026
06:36
Using Zebrafish Larvae to Study the Pathological Consequences of Hemorrhagic Stroke
Published on: June 5, 2019
Cerebral hemorrhage in Fabry's disease
Katsuya Nakamura1, Yoshiki Sekijima, Kimitoshi Nakamura
1Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
Journal of Human Genetics
|March 20, 2010
Summary
Cerebral hemorrhage is a potential complication of Fabry disease, particularly in older males. This condition, caused by alpha-galactosidase A deficiency, may present with both ischemic and hemorrhagic stroke.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
- Ischemic stroke is a known complication, but hemorrhagic stroke is considered rare.
Observation:
- This study reports on three hemizygous male patients with Fabry disease who experienced cerebral hemorrhage.
- One patient had classic Fabry disease (p.Ala37Val mutation), while two had the cerebrovascular variant (p.Glu66Gln mutation).
Findings:
- Cerebral hemorrhage can occur in Fabry disease, challenging the notion of its rarity.
- Contributing factors include small artery degeneration from glycosphingolipid deposition, aging, hypertension, and anticoagulant/antiplatelet use.
Implications:
- Fabry disease should be considered in the differential diagnosis of cerebral hemorrhage, especially in elderly male patients.
- This highlights the importance of recognizing both ischemic and hemorrhagic stroke as potential manifestations of Fabry disease.
Related Concept Videos
01:17Hemorrhagic Stroke l: Introduction
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...
01:29Hemorrhagic Stroke ll: Pathophysiology
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...
01:22Cerebral Edema ll: Pathophysiology
Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
01:16Clot Retraction and Fibrinolysis
After a fibrin clot is formed, the next step is clot retraction, a vital process facilitated by platelet contractile proteins, such as actin and myosin. These proteins pull the fibrin strands closer together and condense the clot. This action reduces the size of the clot, creating a smaller, denser structure that effectively seals off the damaged vessel. Clot retraction consolidates the clot and helps with wound healing by bringing the edges of the damaged blood vessel closer together.
01:19Cerebral Edema l: Introduction
Cerebral edema is a pathological increase in brain water content that disrupts intracranial pressure regulation and impairs neurological function. Because the cranial vault is rigid, even modest increases in tissue volume can compromise cerebral perfusion, distort neural structures, and initiate secondary injury. Cerebral edema develops through four principal mechanisms: vasogenic, cytotoxic, interstitial, and ionic.Vasogenic EdemaVasogenic edema arises from disruption of the blood–brain...
03:03Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...