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Familial Alzheimer’s

Familial Alzheimer’s Disease (FAD) is extremely rare in comparison to other forms of Alzheimer’s and was recently the focal point for the film, Still Alice. It was an incredibly moving film, that allowed you to see how progressive this disease truly is. This is the one form of Alzheimer’s that has a strict genetic component, in that those who inherit the disease will develop symptoms.

What Makes Familial Alzheimer’s Unique?

First of all, this form of Alzheimer’s is rare in that only around 2 to 3 percent of all Alzheimer’s cases are contributed to familial. In fact, it’s believed that only around 200 family bloodlines carry this mutation. Although it’s not guaranteed that the genetic mutation will be passed on if your parent has familial, your chances are fairly substantial.

Secondly, symptoms tend to develop much earlier than usual, with some individuals experiencing symptoms as early as their 30s. This early-onset significantly differs from those who develop late-onset within their later years of life. Last, this form can be detected through genetic testing if individuals would like to know whether or not they’re carrying the mutation. This is completely optional and some opt to avoid testing.

What Causes FAD?

At this time, it’s believed that a mutation occurs on one to three genes: PS1, PS2, and AAP. These specific genes support the development of this disease, as they contribute to the production of the hallmark protein clumps found in Alzheimer’s patients.

If one of your parents have been diagnosed with this disease, you will have a 50 percent chance of inheriting FAD. This cycle tends to continue, as long as the gene is inherited from generation to generation. This is why some opt for genetic testing, especially after seeing a loved one suffer.

In order to be tested, discuss options with your healthcare professional. A blood test will be administered in order to look for the mutations PSEN1, PSEN2, and APP. Overall, the testing can be complex and may take several weeks to months in order to get an accurate result.

Treatment and Available Support

Unfortunately, this is a disease that not only affects the individual suffering from symptoms but everyone around them. Not only are offspring susceptible to carrying the mutation themselves, but like any form of dementia, it’s hard to watch a loved one progressively get worse.

At this time, there are no treatments available in terms of a cure, however, there are treatment options to improve set symptoms and to enhance one’s quality of life. There are various medications which target the neurotransmitter acetylcholine, the brain chemicals that supports memory and learning. For those who cannot take these medications, there are other options which target glutamate in the brain.

For symptoms such as stiffness, seizures, and depression, there are strategies that can be implemented. Medications can address some physical symptoms whereas both medications and therapy options are used to target depression and anxiety.

As this disease progresses, it’s important for family members to reach out for support as well. As primary carers, there are plenty of support groups and mental health services available. In the earliest stages, family members should consider financial and legal arrangements.

 

FAD Support. Diagnosis and Genetic Testing. Retrieved from http://www.fadsupportgroup.org.uk/about-f-a-d/diagnosis-and-genetic-testing/

 

Sauer, A. (2015). What You Need to Know About Familial Alzheimer’s Disease. Alzheimer’s.net. Retrieved from http://www.alzheimers.net/2-19-15-familial-alzheimers-disease

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