Since Alzheimer’s is more commonly seen in people over 70 years old, having family members who develop the disease at this age doesn’t necessarily mean you’re at higher risk. However, FAD is different because the disease results from inheriting a faulty gene.

While typicaAlzheimer’s diseaseusually occurs between the ages of 70-80, FAD often appears much earlier. Most people with FAD develop symptoms before the age of 65, usually between 40-50. However, the age symptoms begin can vary greatly among families, with some individuals developing the disease as early as their 30s.

Causes

FAD is a rare form of Alzheimer’s caused by genetic mutations (defects) in family genes. It is an autosomal dominant disease caused by mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) genes, or duplications in the APP gene. Most FAD cases are caused by the PSEN1 mutation.
Autosomal dominant FAD means inheriting just one copy of the faulty gene from a parent is enough to cause the disease.

Familial Alzheimer’s Disease and Risk

In families with FAD, individuals often develop symptoms at a similar age. If someone inherits the mutation from a parent and lives long enough, they will almost certainly develop the disease. There is a 50% chance (1 in 2) of passing the mutation to a child with each pregnancy. This gene can either be passed on to the child, remain unaffected, or sometimes, both outcomes occur in one family.

Symptoms

The early signs of FAD can vary from person to person but are generally similar to typical Alzheimer’s—memory loss is one of the main symptoms. Most people with FAD experience memory issues early on, such as difficulty remembering events or learning new information.
Unlike everyday forgetfulness, these symptoms tend to worsen over time. Detecting FAD symptoms in the early stages can be challenging.

Memory loss typically progresses in most individuals with FAD, but other, less common symptoms may also appear:

• Difficulty with physical movement: Stiffness, tension, or poor balance can make walking harder.
• Involuntary movements (myoclonus): This may begin with subtle tremors in the fingers and become more noticeable as the disease advances.
• Seizures: Epileptic episodes may occur, especially in the later stages of the disease.
• Behavioral and personality changes: Individuals may exhibit uncharacteristic behaviors.
• Apathy: A lack of interest in activities or participation may occur, sometimes mistaken for early depression.
• Speech impairments: Difficulties in communication may arise.

These unusual symptoms are more common in later stages but may occasionally appear early on, even before noticeable memory problems.

Support

Living with or being at risk for FAD can feel isolating and have significant effects on families. Providing support not just for individuals with FAD but also for their loved ones is essential. Joining FAD support groups can be a great first step.
Support groups offer a space for mutual respect and understanding, where individuals can receive advice, share experiences, and seek help. These groups also provide opportunities to talk to professionals, ask questions, and connect with others in similar situations.

Treatment

Unfortunately, there is currently no cure for Familial Alzheimer’s Disease. However, ongoing research aims to develop treatments that slow the progression of FAD or delay the onset of symptoms.