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Uncovering family inheritance: What's surprising about the different types of cerebral amyloid angiopathy?
Cerebral amyloid angiopathy (CAA) is a pathological condition affecting small to medium-sized blood vessels in the central nervous system and meninges. It is mainly characterized by the deposition of amyloid beta peptide in the vessel walls. This pathological condition can cause microbleeds or intracerebral hemorrhages, which can have a profound impact on the patient's quality of life.
Cerebral amyloid angiopathy is not only associated with cerebral hemorrhage, but is also closely related to the potential risk of Alzheimer's disease.
Type
There are currently several known familial variants of cerebral amyloid angiopathy, often associated with amyloid beta peptide. However, there are also types involving other amyloid peptides, including "Icelandic" (ACys), "British" (ABri) and "Danish" (ADan). Variations in these categories are all related to mutations in ITM2B. In addition, the Finnish type of familial amyloidosis is associated with the gelsolin (AGel) amyloid peptide.
Signs and symptoms
Cerebral amyloid angiopathy is often accompanied by intracerebral hemorrhage, especially microbleeds. Deposition of necrotic amyloid beta peptide can cause damage to blood vessels, making them susceptible to bleeding. Even though Alzheimer's disease is linked to the disease, patients without a history of dementia may develop intracerebral bleeding.
The bleeding location of microbleeds helps distinguish CAA from bleeding caused by hypertension, which usually occurs in deep locations in the brain such as the basal ganglia.
Cause
Cerebral amyloid angiopathy can be sporadic (usually seen in older people) or familial, such as the Flemish, Iowa, and Dutch types. The main cause is the deposition of amyloid beta peptide in the meninges and cerebral blood vessel walls. The cause of amyloid beta peptide elevation in episodic CAA is unknown, but multiple possibilities for abnormal production and clearance have been proposed.
Pathophysiology
Amyloid pathology in cerebral amyloid angiopathy can be divided into type 1 and type 2. Type 1 pathology is characterized by detectable amyloid deposition in cortical capillaries and meningeal and cortical arteries. Type 2 is found in meningeal and cortical arteries, but not in capillaries. These deposits may occur in or within veins, but are relatively rare.
Diagnosis
Conclusive diagnosis of cerebral amyloid angiopathy requires postmortem autopsy, and biopsy may play an adjunct role in confirming possible cases. When a biopsy specimen is not available, MRI or CT scan data can be used to determine whether CAA is possible according to the Boston criteria.
Imaging
Cerebral amyloid angiopathy can present with intracerebral hemorrhages or microbleeds in the cerebellar cortex. These hemorrhages usually occur on the surface of the brain and are different from intracerebral hemorrhages caused by hypertension. CT scans will show high-density bleeding areas and surrounding edema, and various MRI indicators can also be used to identify the characteristics of CAA.
Management
There is currently no cure for cerebral amyloid angiopathy. Management focuses on relieving symptoms, including physical therapy, occupational therapy and speech therapy, which may be helpful.
History
The research on cerebral amyloid angiopathy has a long history. In 1909, Gustav Oppenheim first reported related amyloid beta deposition. In 1938, WZ Scholz published a study specifically on CAA, and in 1979 H. Okazaki focused on the impact of CAA in some cases of intracerebral hemorrhage.
How profound is amyloid angiopathy for those who have it running in their families?
