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 (Aβ) peptides.
Aβ 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 Aβ, 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.
