Signs, Symptoms and Diagnosis of Early-Onset Alzheimer's

Elderly person
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Nearly 5.3 million Americans are living with Alzheimer's disease; although most of them are older, about 5% have a form of the disease called early-onset Alzheimer's. This condition can be diagnosed in people in their 30s, 40s, and 50s.

Although early-onset Alzheimer's disease is rare, those who suspect that they or a loved one have it should seek the advice of a physician immediately, regardless of age. Some medications show promising results in slowing the progression of the disease. And although the diagnosis is certainly scary, a proactive approach is not only practical but can give those affected some sense of control over what lies ahead.

All Alzheimer's disease involves the progressive degeneration of the brain cells, beginning with the hippocampus, the area of the brain that processes memories, and the cerebral cortex, which is responsible for decision making and thought processes. Scientists aren't certain what causes the degeneration or why the progression of the disease varies tremendously among individuals. Most cases of late-onset Alzheimer's disease, usually diagnosed in people over the age of 65, are what researchers call "sporadic" or not necessarily hereditary, although the trigger hasn't been identified. However, researchers agree that almost all early-onset Alzheimer's disease is inherited.

A Strong Genetic Link

Inherited Alzheimer's is also referred to as familial Alzheimer's disease (FAD). According to the National Institute on Aging, if a parent has the familial form of early-onset Alzheimer's disease, his children have a 50% chance of developing the condition.

Mutations in three genes have been linked to familial, early-onset Alzheimer's disease. These genes have been labeled PS1, PS2, and APP by researchers.

Research from the 1990s indicates that mutations on a gene labeled PS1 may be responsible for 30% to 60% of early-onset Alzheimer's cases. Newer research is inconclusive regarding the exact prevalence of specific mutations, but confirms that a PS1 gene is the mutation most commonly linked to FAD.

It is possible to undergo genetic testing for these gene mutations, but there are many pros and cons to doing so, ranging from being able to provide this important health information to your children to coping with the knowledge that Alzheimer's is inevitable. A trusted doctor or genetic counselor can help you decide whether genetic testing is right for you or a loved one. Be sure to check with your insurance company before pursuing testing, because the coverage for costs of testing varies, and some policies don't pay for any of it.

Warning Signs

The early indicators of early-onset Alzheimer's disease are similar to those of late-onset Alzheimer's. These symptoms include regularly losing items, difficulty executing common tasks, forgetfulness, personality changes, confusion, poor judgment, challenges with basic communication and language, social withdrawal and problems following simple directions.

Some experts believe that the disease progresses more rapidly among those with an early diagnosis. However, others argue that the disease just appears to advance faster in those with the early-onset form of Alzheimer's disease because the younger people may be healthier. So, the symptoms may take longer to become noticeable.

Diagnosis and Treatment

Diagnosing early-onset Alzheimer's is no different than a late-onset diagnosis. Because there is no test for Alzheimer's, physicians basically work to rule out all other causes for the symptoms. The only way to definitively diagnose Alzheimer's is to examine brain tissue after death.

According to the Fisher Center for Alzheimer's Research Foundation in New York, a physician will typically perform the following tests while evaluating a patient for Alzheimer's disease:

  • Clinical exam including blood pressure, vision and hearing evaluations.
  • Medical history including current prescriptions and recreational drug use as well as a detailed description of the suspected symptoms.
  • Lab tests including glucose tolerance, thyroid testing, and complete blood count. The physician is looking to see if another illness may be responsible for the symptoms.
  • MRI or CT scan of the brain to find blood clots or tumors that may be causing the symptoms.
  • Neuropsychological testing in which physicians conduct tests to assess attention span, coordination, memory and problem-solving skills. These tests will provide a more accurate assessment of the individual's symptoms.

Coping with early-onset Alzheimer's disease requires the support of family and friends, as well as careful planning for long-term care and how to pay for it. 

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