Misdiagnosis common in early-onset Alzheimer's
May 16th, 2011
04:44 PM ET

Misdiagnosis common in early-onset Alzheimer's

You probably think of Alzheimer's disease in connection with memory problems. But other patterns of behavior that stem from this condition, sometimes even without memory deficiencies, can also be symptoms of the disease. In fact, research has shown that people younger than 65 with early-onset Alzheimer's disease, are more likely to have impairments in visual, behavioral, language and other functioning than memory deficiencies in their first symptoms.

A new study in the journal Neurology suggests that many people with early-onset Alzheimer's do not get a proper diagnosis based on their symptoms. A better solution would be to identify biomarkers, through cerebrospinal fluid or PET scans, that reflect Alzheimer's disease in the brain, said co-author Dr. Jose Luis Molinuevo, of the Hospital Clínic of Barcelona and the Institute of Biomedical Investigation August Pi i Sunyer, in Barcelona, Spain.

The study looked at 40 people whose  symptoms began between ages 46 and 60, and who had died and donated their brains to science. Autopsies revealed that they'd had the pathology of Alzheimer's disease, which affects more than 5 million people in the United States. Medical records showed what their symptoms were and when they began.

Researchers found that 15 patients had atypical symptoms - for instance, no episodic memory impairment at clinical onset. Of these people, 53% had gotten an incorrect clinical diagnosis; the autopsies suggested Alzheimer's disease, but they had gotten misdiagnoses of other neurological disorders, including other forms of dementia.

When these patients received their diagnoses, which was 20 or 30 years before in most cases, many doctors were less aware that Alzheimer's disease could begin so early in life, and wouldn't have necessarily connected these atypical symptoms with Alzheimer's disease, Molinuevo said. Although there is no cure for Alzheimer's, these patients could have received treatments that are specific to the disease and designed to slow the progression of clinical symptoms.

The research is important, and extends previous conclusions about late-onset Alzheimer's to early-onset cases, said Dr. Christiane Reitz, assistant professor of neurology at Columbia University Medical Center, who was not involved in the study

But the research has an underlying problem: It’s unclear whether all those disorders that might look like Alzheimer's are truly separate disorders, or belong to one family.  Reitz is unconvinced that an autopsy could truly distinguish Alzheimer's from all other dementias and neurological disorders involved in the misdiagnoses. It's hard to diagnose Alzheimer's clinically, but we're not at the point where we can definitively define it in autopsy either, she said.

"From a scientific point of view, we really have to understand which pathology leads to which specific symptom," Reitz said.

Recently the Alzheimer's Association and the National Institutes of Health introduced stages of Alzheimer's that would include even mild symptoms.

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