Alzheimer's Signs Found in Brains of Young Adults With Gene Mutation11/06/12
TUESDAY, Nov. 6 (HealthDay News) -- Scientists have discovered
the earliest known evidence of Alzheimer's disease in people with a
gene mutation that causes a rare form of the disease that begins at
a young age.
The findings from the two studies could improve understanding of
how and why Alzheimer's progresses and possibly lead to earlier
detection of the disease and improved treatments, according to the
In one study, researchers conducted brain scans and other tests
on 44 young adults, aged 18 to 26, in Colombia. Twenty of them had
a mutation of a gene called presenilin 1 (PSEN1) that causes
Alzheimer's to develop at an unusually early age, and 24 did not
have the mutation. None of the participants showed any signs of
mental decline at the time of the study.
There were notable differences in brain structure and function
between the young adults with the PSEN1 mutation and those without
it. The participants with the PSEN1 mutation had greater activity
in regions of the brain called the hippocampus and the
parahippocampus, and less gray matter in certain brain areas.
In addition, the cerebrospinal fluid of the young adults with
the PSEN1 mutation had higher levels of amyloid beta protein, which
is a component of the amyloid plaques in the brain that are
associated with Alzheimer's disease.
On average, people with the PSEN1 mutation start to show signs
of mental decline at age 45. This study shows that biomarkers in
these people are evident at least 20 years before symptoms begin to
appear. That's earlier than any previous study has found.
The study was published Nov. 5 in
The Lancet Neurology.
"These findings suggest that brain changes begin many years before the clinical onset of Alzheimer's disease, and even before the onset of amyloid plaque deposition. They raise new questions about the earliest brain changes involved in the predisposition to Alzheimer's and the extent to which they could be targeted by future prevention therapies," study leader Dr. Eric Reiman, at the Banner Alzheimer's Institute, in Arizona, said in a journal news release.
In a second study, the same group of researchers found that
amyloid plaques begin to accumulate in the brains of people with
the PSEN1 mutation when they are in their late 20s.
The findings will "help set the stage for the evaluation of
treatments to prevent familial Alzheimer's disease, and hopefully
aid our understanding of the early stages of late-onset Alzheimer's
disease, which is more widespread," the researchers wrote in the
Nick Fox, a professor at the Institute of Neurology at
University College London, wrote a journal commentary that
accompanied the first study.
"These findings question our models of Alzheimer's disease on several fronts. They suggest that neurodegenerative changes occur over 20 years before symptom onset and somewhat earlier than was suggested by previous brain imaging studies of individuals at risk of inherited Alzheimer's disease," Fox wrote.
"Further research is needed, but one interpretation of these results might be that they add to the accumulating evidence that Alzheimer's disease is characterized by a long presymptomatic period of slowly progressive changes that can potentially be tracked, thereby opening up a therapeutic window for early intervention," he added.
The U.S. National Institute of Neurological Disorders and Stroke
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