ABri amyloidosis

ABri amyloidosis is a form of cerebral amyloid angiopathy that typically begins in the 4th to 6th decade of life. People with this condition experience a gradual decline in mental abilities and also show signs of spasticity and muscular rigidity. This means that over time, the brain changes involve the blood vessels and lead to changes in brain function. This condition has a genetic basis linked to a mutation in the ITM2B gene on chromosome 13q14.2. It is inherited in an autosomal dominant manner, which means a change in just one copy of the gene can lead to the disease. Information from trusted sources helps to outline the main features of the disease, although more research is needed to fully understand all aspects of it.

People with ABri amyloidosis often show progressive mental deterioration. They may also experience spasticity, which can make muscles feel stiff, and muscular rigidity. Unlike some other conditions, tremors, spontaneous movements, or sensory changes are not typically observed with this condition.

This condition is caused by an autosomal dominant mutation in the ITM2B gene, which is located on chromosome 13q14.2. In other words, a change in one copy of this gene can lead to the development of ABri amyloidosis. The genetic cause is the key factor in how the disease develops in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.