What you need to know about younger-onset Alzheimer’s disease

The older you get, the greater your risk of developing Alzheimer’s disease, a type of dementia that causes memory loss, affects thinking and changes behavior.

While Alzheimer’s disease usually affects people over the age of 65, it can also affect people in their 40s, 50s and early 60s. When it does, the condition is known as younger-onset or early-onset Alzheimer’s disease.

Of the 5 million to 6 million people in the U.S. with Alzheimer’s disease, about 5% — roughly 250,000 to 300,000 people — have younger-onset Alzheimer’s.

I’ve been diagnosing memory and neurodegenerative disorders for the past 25 years, and in that time, there has been an evolution in our understanding of Alzheimer’s disease and the tools we use to make a diagnosis. We now recognized that some forms of younger-onset Alzheimer’s disease can produce symptoms, especially in the early stages of disease, that might differ from typical Alzheimer’s disease, which often results in significant delays in the diagnosis.

These less common forms of Alzheimer’s disease appear to occur more often in people under age 65. In recent years, UChicago Medicine’s Center for Comprehensive Care and Research on Memory Disorders has focused its attention on these younger patients.

What are symptoms of younger-onset Alzheimer’s disease?

A common early symptom of Alzheimer’s disease is trouble remembering newly learned information. That’s because the disease tends to begin in the part of the brain known as the hippocampus, which is associated with learning and memory.

It is important to note that memory problems can be symptoms of other conditions, not just Alzheimer’s disease. For that reason, it is important to look for other “treatable” conditions as the cause. Depression, for example, can cause cognitive troubles. So can problems with sleep, high blood pressure, diabetes and some cardiovascular issues.

While forgetfulness, misplacing things, and repeating oneself are common symptoms in patients with typical Alzheimer’s disease, in younger-onset patients, memory may not be the first problem recognized. Some patients might develop difficulty with processing their visual world. For instance, they might reach for something and miss it, stop noticing things right in front of them, or have difficulty telling time on an analog clock or even dressing correctly. They might have vague complaints about their vision, or feel as though they are not seeing things correctly, which could lead to trouble putting a key in a lock, staying in the correct lane while driving, or, in extreme cases, keeping from bumping into the wall or doorway. They might also have a loss of organizational skills, behavioral changes or difficulty with language and communication skills. Therefore, it is important to recognize any changes from normal.

The only way to determine if you have younger-onset Alzheimer’s is to have a comprehensive medical exam by a doctor who specializes in memory care, such as those at UChicago Medicine’s Center for Comprehensive Care and Research on Memory Disorders.

What’s an evaluation like for younger-onset Alzheimer’s?

Before the evaluation, a pre-visit questionnaire is sent to the caregiver, spouse or close friend of the patient to help gather information about the timeline and specific symptoms the patient is experiencing.

On the day of the evaluation, we gather medical history information, discuss the symptoms and perform a neurological physical exam. We ask a family member or close friend to come to the first appointment, since memory problems may interfere with the patient’s ability to recognize all the difficulties they’re having.

We do a neurological exam to assess the integrity of the nervous system. We test strength, coordination and sensation. We also perform a cognitive screening assessment to give us an idea if there’s a cognitive problem and how significant it might be. Depending on the results, we may do additional diagnostic tests.

After the clinic visit, the patient will have blood tests to look for disturbances in normal physiology, especially thyroid function and vitamin deficiencies. There could be more specific tests depending on the patient’s medical history.

What follow-up tests could be done?

We might arrange for a comprehensive neuropsychological evaluation to provide a very detailed assessment of the patient’s cognitive function. In many cases, that assessment may require an entire day, with a lunch break in between morning and afternoon sessions.

Brain CT and MRI scans may be done to help us see if there are underlying strokes or cerebrovascular disease contributing to memory problems, in addition to eliminating concerns about tumors or other structural causes of cognitive dysfunction.

We have special imaging tools that allow us to look at the activity of the brain in regions where memories are made. Functional brain scans allow us to see if there’s a significant loss of activity in those important areas. For some patients, this provides a more sensitive indicator of an underlying disorder that could potentially be Alzheimer's disease.

A lumbar puncture might also be performed on some patients. This procedure allows us to detect certain proteins in the spinal fluid that provide information about the brain, especially Alzheimer's disease. In most patients with younger-onset cognitive dysfunction, the lumbar puncture may be necessary to give us 100% assurance of the diagnosis, which is especially important in these patients who are still working and may be supporting a family. Because Alzheimer’s disease is uncommon in people under 65 years of age, the lumbar puncture also helps to evaluate other conditions that cause dementia in younger people, such as inflammatory or autoimmune diseases.

How can you get evaluated to see if you have younger-onset Alzheimer’s?

Patients can be referred by their doctor or make an appointment themselves. Younger patients are evaluated in UChicago Medicine's outpatient clinic on the Hyde Park campus. If you are under the age of 65, call 773-702-6222 for an appointment.

How do you treat younger-onset Alzheimer’s disease?

The diagnostic evaluation in a younger-onset patient requires a slightly different, more detailed approach than the later-onset Alzheimer’s disease patient, although the medications used for treatment are similar. However, because of the unusual symptoms that may develop in younger-onset Alzheimer’s disease, and the impact this may have on the family, there are considerable differences in the way we manage and provide supportive services to these patients.

Are you doing any studies on younger-onset Alzheimer’s?

We're doing a study right now using a special brain scan that can assess the pathology of Alzheimer's disease in a living person without having to do the lumbar puncture. The test is FDA-approved, but it's very expensive and most insurance companies do not pay for it. Unfortunately, the test is available through this study only if the patient has Medicare coverage. We are also carrying out several clinical research studies for patients in the very early stage of Alzheimer’s disease, and we are currently planning a new clinical trial that works by gene therapy to prevent accumulation in the brain of one of the damaging proteins involved in Alzheimer’s disease.

What can I do to prevent younger-onset Alzheimer’s disease?

Although we know less about whether lifestyle modifications delay younger-onset Alzheimer’s, we suggest that everyone follow a healthy lifestyle that may impact the development of Alzheimer’s disease, in general. This includes: a healthy diet, such as the Mediterranean or the MIND diet, which has lots of vegetables, fish, fruits and nuts, and less red meat, butter and sugar intake; daily exercise with a brisk walk or a cardio workout; 7-9 hours of sleep each night; staying actively engaged socially; exercising your brain with challenging tasks; and taking medications as prescribed for medical problems, especially high blood pressure or diabetes, as they can increase the risk for Alzheimer’s disease.

James Mastrianni, MD, PhD, is a professor of neurology at the University of Chicago and the director of UChicago Medicine’s Center for Comprehensive Care and Research on Memory Disorders. He also heads a basic science laboratory in which he studies Alzheimer’s disease and prion diseases, unusual transmissible neurodegenerative dementias.