James' World 2

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Henry, a carpenter in his late 50s who worked for a small business, had been making and refinishing furniture for years. Then he started having difficulty using tools. The quality of his work rapidly declined, and eventually, he was fired. At home, his wife grew frustrated with him for forgetting their conversations. He was not doing a good job with chores such as loading and unloading the dishwasher. 

Henry went to see a doctor, who referred him for cognitive testing. The results came back “invalid.” Among the potential diagnoses the neuropsychologist came up with was “malingering”—basically faking his cognitive impairment. The specialist apparently did not anticipate that someone so young might have dementia. As a result, Henry’s application for disability benefits was denied.  

By the time Henry walked into my clinic at Washington University in St. Louis, he and his family were confused and desperate. His wife thought perhaps Henry was being lazy and didn’t want to work or help around the house. But he seemed to struggle with simple tasks, such as dressing himself, and his problems were getting worse. She was worried.

As a cognitive neurologist, many patients come to see me because they’ve noticed subtle changes in their memory and thinking. Their major question is, “Do my symptoms represent the beginning of a progressive neurological illness like Alzheimer’s disease?” The answer is often not clear at their first visit, even after I take a detailed history, do brain imaging, and check routine blood work. Mild problems with memory and thinking are relatively common and can have many causes, such as poor sleep, stress, sleep apnea, various medical conditions, and certain medications. 

When patients with subtle changes in memory and thinking come to our clinic and the cause is unclear, a common strategy has been “cognitive monitoring”—watching patients over time to see if their problems get better, stay the same, or get worse. Some patients improve after interventions such as stopping a medication or starting treatment for sleep apnea. Some patients continue to experience cognitive difficulties but never really worsen. And some patients progressively decline until it becomes clear that they have a neurological disorder. Which leads to another difficult question: Are their symptoms caused by Alzheimer’s disease? 

Clinicians define dementia as a decline in memory and thinking that affects a patient’s function in everyday activities. There is a continuum of dementia, from being unnoticeable by people who do not know the patient well to causing complete dependence on others for dressing, bathing, eating, toileting and other simple tasks. Dementia, particularly when very mild, can have many causes, some of which are treatable. Alzheimer’s is the most common cause of dementia in patients older than 65 years. It is characterized by specific brain changes, including the deposition of amyloid plaques. These brain changes slowly worsen over time and can be detected 10 to 20 years before the onset of symptoms. 

Not long ago, it was impossible to know for sure whether a patient with cognitive impairment had Alzheimer’s disease or some other cause of dementia without an autopsy. In recent years, we have vastly improved our diagnostic capabilities. We can now offer blood tests that can enable earlier and more accurate diagnoses of large numbers of people.

Spinal taps and amyloid PET scans

In 2012, the U.S. Food and Drug Administration  approved amyloid PET scans, which can reveal the presence of the amyloid plaques characteristic of Alzheimer’s disease and which are thought to initiate a cascade of brain changes that culminate in dementia. In 2022, the FDA approved the first test for Alzheimer’s disease that measured amyloid proteins in the cerebrospinal fluid or CSF.

For more than a decade, neurologists like me had been using CSF tests to determine whether patients with cognitive impairment were likely to have Alzheimer’s brain changes. While neurologists perform spinal taps to collect CSF to test for a variety of conditions, and it is safe and well-tolerated, most people have never had a spinal tap and it may seem scary. Even if the CSF testing provides a more certain diagnosis, patients often aren’t interested in having a spinal tap unless it has a major impact on their care. Patients will ask, “If I test positive, is there anything you would do differently?” For years, in most cases, I have said, “Probably not,” and that I would still treat them with the same medications and follow them in the same way. For this reason, we didn’t do many tests for Alzheimer’s—as my patients put it, “There’s nothing we can do about it anyway.”

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