Language changesbelonging lead or visual effects. Some symptoms not associated with Alzheimer’s diseasebut they may be the first when the disease appears before the age of 65, and sometimes even at 30 years of age, and when early diagnosis is one of the biggest problems.
Mutation associated with increased resistance to a particular type early-onset hereditary Alzheimer’s diseaseAlthough the disease occurs early, it is not usually linked to genetic causes, say experts who analyze what is known about it and research directions.
More than 80 percent of cases are sporadic (not associated with a mutation), the researcher notes, and while there may be a specific genetic component, there are other factors. Oriol Graufrom the Barcelona βeta Brain Research Center (BBRC) of the Pascual Maragall Foundation, quoted by the news agency EFE.
The prevalence of early-onset dementia varies between different studies, but it is about one case per thousand inhabitants, with Alzheimer’s disease being the most common cause, added Alberto Llado, a researcher at the Alzheimer’s Department at the Barcelona Hospital.
atypical symptoms
Characteristically, in early-type Alzheimer’s disease, the frequency of “atypical manifestations” is higher. In 30 percent of cases, the first symptoms may differ from memory symptoms, while in older patients these unusual signs occur in less than 10 percent of cases, Llado said.
When the disease begins after age 70, it is characterized by a progressive loss of recent memory with atrophy of the hippocampus, the area of the brain that allows us to learn and remember new information.
In young people, symptoms may begin with difficulties with self-expression And understand thingsproblems to make sure coordinated movements, calculate distances or behavioral disorderssaid Llado, adding that younger patients may, in general, have faster evolution.
Diagnosing this disease can become a problem if the person suffering from it is younger than 65 and also has these atypical symptoms.
It may take longer for a patient to get to a specialist because “Being younger, doctors are unaware at first that it might be Alzheimer’s disease, making an atypical presentation,” Grau said.
genetic causes
The origin of early-onset Alzheimer’s disease is unknown (other than genetics), but it is known that there is no difference in the neuropathological changes that characterize the disease: deposits of beta-amyloid and tau proteins in the brain. .
What may change in people with atypical presentations, especially early in the course of the disease, are patterns of tau distribution in the brain that are “slightly different,” Grau said.
Sometimes early-onset Alzheimer’s disease is genetic in origin due to mutations in one of these three genes: PSEN1, PSEN2, and the amyloid precursor protein gene. Depending on the affected gene, it usually appears before the age of 60, even over 50, and in extreme cases over 30.
In Colombia, the province of Antioquia has a population, many of whom carry the Paisa (PSEN1) mutation, which predisposes to the development of Alzheimer’s disease autosomal dominant. Those affected typically develop mild cognitive impairment around age 44, dementia at age 49, and die from complications around age 60.
In this group, two cases of two mutations with a protective effect against the Paisa mutation with the ability to delay the onset of the disease for years were identified. The second case was recently published in the journal Nature.
Llado pointed out that knowledge of genetic changes or factors that can delay the onset of Alzheimer’s disease “is of great interest in studying possible mechanisms of action and suggesting possible new treatments.”
Javier de Felipe, a neuroscientist at the Cajal Institute, studies the anatomy of the brain and, in Alzheimer’s disease, changes in brain circuits to try to explain cognitive decline. Among the brains he was able to analyze is one from this population with the Pais mutation.
De Felipe analyzes the brain to try to see what changes must occur in neural connections to cause cognitive decline.
many areas of research
The researcher emphasized that in relation to Alzheimer’s disease in general, there are cases where amyloid plaques and tau protein tangles are found in the brain, but according to their medical history, the patients did not have cognitive impairment.
“Not unusual”Therefore, it is being studied what makes this jump between these changes in the brain and cognitive decline.
There are many open avenues of work in research, Llado emphasized, among them those aimed at improving understanding of the causes of the disease, faster and safer diagnosis, or the search for new therapeutic targets and drugs.
And there are still unknowns to be addressed regarding early Alzheimer’s disease. Why the clinical picture is different, or to what extent it is the same disease, or these are different variants, Grau listed. “These are things that still don’t have a clear answer and the investigation is ongoing.”
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