AVEN
Aven: A Rare Neurodegenerative Disorder
Description
Aven, also known as Alzheimer's disease type 7 or familial British dementia, is a rare inherited neurodegenerative disorder that affects the brain. It is caused by mutations in the presenilin-1 (PSEN1) or presenilin-2 (PSEN2) genes, which are involved in the processing of amyloid precursor protein (APP) into amyloid-beta (AΞ²) peptides.
AΞ² peptides are a major component of amyloid plaques, which are a hallmark of Alzheimer's disease. In aven, the mutations in PSEN1 or PSEN2 lead to an overproduction of AΞ², which forms toxic aggregates that accumulate in the brain. These aggregates disrupt neuronal function, leading to progressive cognitive and behavioral decline.
Associated Diseases
Aven is a rare disease, with an estimated prevalence of 1 in several million individuals. It is often misdiagnosed as Alzheimer's disease or frontotemporal dementia because it shares similar symptoms. However, there are some key differences between aven and these other disorders.
- Age of onset: Aven typically appears in early adulthood or middle age, while Alzheimer's disease and frontotemporal dementia usually occur in older adults.
- Symptoms: Aven is characterized by a rapid progression of cognitive decline, often accompanied by seizures and psychiatric symptoms. Alzheimer's disease and frontotemporal dementia have a more gradual onset and progression, and seizures are not a common symptom.
- Genetics: Aven is caused by mutations in PSEN1 or PSEN2 genes, while Alzheimer's disease and frontotemporal dementia are associated with mutations in different genes.
Did you Know ?
Approximately 50% of individuals with aven inherit the mutation from one affected parent. This means that they have a 50% chance of developing the disorder, regardless of their gender.
