“I don’t know who this man is and he keeps getting into bed with me,” the woman said in a noticeably frightened voice. “I keep telling him my husband will be coming home,” she said, “but he won’t leave.”

The man was her husband, and the woman was experiencing Early-onset or Young-onset Alzheimer’s, a neurological disorder that can affect younger persons in their 30s, 40s, or 50s. Seen less frequently in clinical practice, it can be misdiagnosed and is of great concern.

One current theory is that this type of Alzheimer’s may be familial, but a similar form is found in those with Down Syndrome. Estimates suggest that 50 percent or more of people with Down syndrome will develop dementia due to Alzheimer’s disease as they age.

Younger Alzheimer’s patients may face stigmas and stereotypes about the disease. Due to their young age, people with young-onset Alzheimer’s may find that others do not believe they have the disease or question the diagnosis. It’s also not uncommon to be told your symptoms may be related to stress, menopause, or depression.

People with young-onset Alzheimer’s may lose relationships or jobs as a consequence of this misunderstanding instead of being identified as medically ill or disabled.

The woman, in this case, was in her mid-50s, attractive, well-groomed, and was from a socially prominent family with considerable financial resources. Beginning a year or two before her clinical assessment at an Alzheimer’s clinic, she had persuaded her husband that thieves were coming into their home. She began to have insomnia because of her fear and became socially isolated.

Triple security systems were installed, but she still insisted they were in danger and should keep a gun in their bedroom. Then, she began to suspect that her husband wasn’t her husband at all.

It was time for more certain clinical measures. The diagnosis was Early-onset Alzheimer’s, but since no records were available, a familial connection couldn’t be made.

Although it is Early-Onset Alzheimer’s Disease (EOAD), there are several differences in symptoms that increase the likelihood of misdiagnosis.

Individuals with early-onset Alzheimer’s demonstrate more often atypical presentations than those with late-onset Alzheimer’s disease. Many of those with early-onset don’t have significant memory loss initially — the classic hallmark symptom of Alzheimer’s.

Their disease progression does not begin with symptoms of forgetfulness. Some of these individuals present with visual symptoms — inability to see the full picture giving them in essence a “tunnel vision”, impaired depth perception or inability to recognize faces — or impaired speech/difficulty coming up with words in conversation.

But, according to some studies, early-onset Alzheimer’s disease also progresses much faster than late-onset.

Why Early-onset Alzheimer’s?

Most types of early-onset Alzheimer’s disease are the same, but there are a few small distinctions:

Common Alzheimer’s disease. The majority of people with early-onset Alzheimer’s disease have the common form of Alzheimer’s disease. The disease will progress in roughly the same way as it does in older people with Alzheimer’s disease.

Genetic Alzheimer’s disease. This form is extremely rare. A few hundred people have genes that directly contribute to Alzheimer’s disease. These people begin showing symptoms of the disease in their 30s, 40s, or 50s.

Although much is still to be discovered about both types of Alzheimer’s, one study of nuns in the Midwest has provided some interesting insights. The researchers noted that mood and education might play significant roles in any dementia.

One interesting aspect of the lives of the nuns was that they maintained a lifestyle of continuous learning. One nun made it her chore to learn a new language every year, if possible.

“A pattern of emotional expression that accentuates positive
affect undoubtedly has behavioral correlates that could enhance or
disrupt the positive effects on physiology and health.”

One nun in the study had physiological evidence at her death that defied the theories about how Alzheimer’s develops in any patient.

Sister Mary, the gold standard for the Nun Study, was a remarkable woman who had high cognitive test scores before her death at 101 years of age. What is more remarkable is that she maintained this high status despite having abundant neurofibrillary tangles and senile plaques, the classic lesions of Alzheimer’s disease.

Education, too, may play a significant role in the development of Alzheimer’s (AD). As noted in recent work in neurology, “protective environmental factors, like increased education, may promote brain resistance against β-amyloid pathology in both sporadic and autosomal dominant AD.” The accumulation of amyloid is believed to promote the development of memory impairment. Is learning one of the keys to prevention?

Is Prevention Possible?

The theories about the development of AD have centered around genetics, the tau protein, beta-amyloid plaques, and tangles, and now diet is being considered.

Not all studies have shown a link between eating well and a boost in cognition. Overall, the evidence suggests, but does not prove, that following a Mediterranean or similar diet might help reduce the risk for Alzheimer’s dementia or slow cognitive decline.

The dietary theory is based on the fact that certain foods like fish may provide anti-inflammatory and antioxidant properties that protect the brain. These foods, then, could inhibit the development of beta-amyloid deposits and promote the maintenance of normal brain functioning.

The jury is still out on both Early-Onset Alzheimer’s and the form in older patients, but a number of both environmental and genetic factors are in play.

Resources:

1. Early-Onset Alzheimer’s Disease: A Resource List
2. Living with Alzheimer’s: For Younger-Onset Alzheimer’s
3. Education may be protective for people with gene for familial early-onset Alzheimer’s

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The nosologic categorization of “senile” is inaccurate and diagnostically problematic. And Alzheimer’s is only one dementia, and there are many others, currently about ten types. The problem is in identifying the individual’s precise dementia and treating it appropriately.

So if 4 million Americans have Alzheimer’s (over the age of 65), around 200,000 to 240,000 people have the young-onset form of the disease.

A Diagnostic Mystery

Overt symptoms of other dementias can mimic those of Alzheimer’s, and the beginning of any research or evaluation depends on accurate diagnosis. But, if many dementias appear to be the same, how does a clinician differentiate between each of them? Therein lies one of the problems. Has the diagnosis been shored up to ensure accuracy?

It’s important to note that Alzheimer’s disease can be definitively diagnosed only after death, by linking clinical measures with an examination of brain tissue in an autopsy.

I was the national clinical monitor for the first trial of a treatment for Alzheimer’s (Cognex), and the issue of diagnosis was of primary concern. One aspect of our clinical efforts was to collect brains from autopsies of patients with Alzheimer’s. The diagnosis came up against stark reality in one instance. An illustration would be helpful here.

A researcher was tasked with collecting brains as they became available from local healthcare/hospital facilities. His beeper alerted him each time he was to make a pick-up.

Bucket in hand, he went to a nearby facility where he was to collect several brains. The researcher was shocked when he arrived and was told they no longer had brains for him.

The reason they no longer had the brains was clear; they were infected with Creutzfeldt-Jakob disease, a highly contagious virus.

Misdiagnosed as Alzheimer’s, the brains had to be appropriately disposed of, and the autopsy room adequately disinfected. If brain surgery had been involved before the autopsy, all the surgical instruments would be discarded from future use, and the room left empty for robust cleaning. Even experienced clinicians had been led to an inaccurate diagnosis at that time.

Why the Brains Were Collected

The uncovering of the possible familial pathology of AD is highly important. Having this potential genetic transporting of the disease can be vital for families afflicted by the disease and this is where brain banks come to play.

The banks share samples and attendant demographic and clinical information with qualified researchers worldwide. Many brain banks operate as part of larger consortia that maintain virtual inventories of their combined holdings and offer a centralized portal to match tissue requests with local supplies.

Studies of family history say that if you have a close relative who has been diagnosed with Alzheimer’s disease — the most common form of dementia in older adults — your risk increases by about 30%. This is a relative risk increase, meaning a 30% hike in your existing risk. Genetic testing, however, does not mean you will develop Alzheimer’s because a relative has it.

Having the specific gene for AD (APOE4) does not mean you will develop the disease. Many other factors may be involved. The gene is not the sole determinant of the illness.

The Current State of Diagnosis

How Alzheimer’s changes the brain, both structurally and cognitively, was previously diagnosed utilizing paper-and-pencil tests and neuroimaging. The task has now been improved with newer techniques, including newer types of brain scans.

Although these brain scans, such as computed tomography (CT), magnetic resonance imaging (MRI), or positron emission tomography (PET), to rule out other possible causes for symptomsmay be useful rule-outtechniques, they may not provide a definitive diagnosis of Alzheimer’s. Autopsy remains the most accurate form of diagnosis. But research has uncovered a newer test.

A new blood test (plasma P-tau217)shows promise of differentiating between AD and other dementias at a much earlier age. The analysis identified tau protein, the main actor in the forming of brain neurofibrillary tangles believed to be one primary cause of brain neuron loss.

The researchers stated “…these results indicate that plasma P-tau217 might be useful in the differential diagnosis of patients with cognitive impairment, and future studies need to examine how this might improve case management and treatment of patients with symptomatic AD.

Plasma P-tau217 might be especially useful at facilities with limited access to CSF or PET testing, such as in primary care and most memory clinics globally, including those in low- and middle-income countries, but assay development and validation in such settings are needed first.”

The most significant finding, perhaps, was in this blood test to specifically differentiate AD from other forms of dementias. One researcher, Dr. Oskar Hannson, of Skane University Hospital in Malmö, Sweden offered his assessment of the test.

“Levels of p-tau217 increase only in Alzheimer’s disease — and not in other dementia disorders also characterized by tau pathology — strongly indicating that plasma p-tau217 is very specific for Alzheimer’s disease.”

The blood test may signal the presence of tau long before symptoms appear, however, one company, AC Immune SA (NASDAQ: ACIU), is working on a vaccine to prevent tau formation. “Immunization with anti-Tau vaccines has become an important strategy for the treatment of AD and other neurodegenerative diseases characterized by tau pathology.”

The search continues as the numbers of those in the over-65-age group increases. Faced with this silver tsunami, the medical community is placing significant resources to both discovering AD earlier, prevent or treat it.

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