Towards a simpler, more reliable Alzheimer's diagnosis
Date: Jul-04-2014Alzheimer's disease is the most common form of dementia - a syndrome that affects
memory, thinking, behavior and autonomy. Yet getting a reliable, early diagnosis for Alzheimer's
is not easy - more than 1 in 3 patients receive an incorrect diagnosis. Now an international
team of researchers that has spent 10 years working towards a simpler, more reliable approach to
the diagnosis of Alzheimer's disease, reveals its proposals in a Position Paper published in the
journal The Lancet Neurology.
According to the World Health Organization, the number of people with dementia is expected to double by 2030 and more than triple by 2050.
According to the World Health Organization, worldwide there were around 36 million
people with dementia in 2010, and this number is expected to double by 2030, and more than triple by
2050.
About 70% of dementia cases are Alzheimer's - a brain-wasting disease caused by loss of brain
cells that become damaged when faulty proteins accumulate inside and around them. As the
behavioral and cognitive symptoms of Alzheimer's disease overlap with other forms of dementia,
clinicians and researchers are faced with real challenges when it comes to making a reliable
differential diagnosis - especially in the early stages.
In 2005, an international group of neurologists redefined a set of diagnostic criteria for
identifying patients with Alzheimer's. Until then, it had been necessary to wait for patients to
die before establishing a diagnosis by autopsy. The most that could be done for living patients
was to estimate the probability of them having Alzheimer's, and then only in the late stages of
the disease, which was decided based on severity of dementia.
Introduction of biomarkers transformed diagnosis of Alzheimer's
And then in 2007, the group transformed the diagnostic criteria by introducing the idea of
biomarkers. For the first time, there was the possibility of diagnosing Alzheimer's more reliably
in living patients using biological disease signatures that are present in the early stages.
When they revealed their new diagnostic criteria they caused a sensation. One group of
researchers declared that "36% of their patients included in a therapeutic trial based on previous
clinical criteria did not have Alzheimer's disease," says Bruno Dubois, a professor of neurology
at the French biomedical and public health research institution Inserm, and co-ordinator of the
2007 group.
Prof. Dubois, who is also first author of the new paper, goes on to explain that the
implications of such a discovery were serious - patients were not receiving the right care or
treatment, and poor selection of participants is likely also to have led to flawed conclusions
about treatment effectiveness.
New Alzheimer's diagnostic criteria are 'more refined'
Things have moved on significantly since 2007, causing the group to revisit the diagnostic
criteria for Alzheimer's in the light of new studies. The Position Paper marks "the end of the
road," says Prof. Dubois, who adds: "we have arrived at the essence, something refined, resulting from an
international consensus."
The group has not only arrived at what it believes is a more reliable algorithm for diagnosing
Alzheimer's, but a much simplified one too, that relies on "just a couple of clinical-biological
criteria for all stages of the disease," explains Prof. Dubois.
The method is in two parts: a suggestive clinical picture that can be one of three scenarios
(typical, atypical, and preclinical), and a biomarker.
In 2007, for the first time, there was the possibility of diagnosing Alzheimer's more reliably in living patients using biological disease signatures that are present in the early stages.
The group suggests most of the time, the diagnosis of Alzheimer's will be based primarily on a
suggestive clinical picture that is then subsequently confirmed or rejected using one of the two
biomarkers.
The three scenarios of the suggestive clinical picture are:
Typical cases (expected to be 80-85% of cases): brain changes that lead to problems with
episodic long-term memory, including difficulty remembering a list of words, even with hints
Atypical cases (15-20% of cases), brain changes that cause problems with verbal memory and
other behavioral problems
Preclinical states, where patients do not appear to have symptoms, but for some reason - for
instance from taking part in a trial - are discovered to have biomarkers or gene mutations for
Alzheimer's.
The two biomarkers - only one of which is required to confirm or reject the suggestive clinical
picture diagnosis - are:
Abnormal levels of brain proteins in cerebrospinal fluid (higher levels of tau and reduced
levels of beta amyloid protein). The fluid is obtained by lumbar puncture
PET (positron emission tomography) brain scan that shows higher retention of an amyloid
tracer.
Meanwhile, Medical News Today recently learned of a new diagnostic tool to help
clinicians differentiate between
Alzheimer's disease, frontotemporal dementia and mild cognitive impairment. The software-based
tool is a new combination of various methods for the differential diagnosis of Alzheimer's and the
other two conditions, and comprises a Disease State Index that draws from multiple sources such as
psychological tests and brain MRI, and a visual counterpart, a Disease State Fingerprint.
Written by Catharine Paddock PhD
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Courtesy: Medical News Today
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