/p>>An article from Merche CardonaSocial Integrator and Alzheimer’s expert
The approach of the Alzheimer disease from the perspective of the patient’s direct descendants, who see that they may have genetic predisposition to inherit the diseaseis one of the most complex aspects to assume at the time of diagnosis.
The next of kin are faced with two complicated situations: one, their own medical opinionand the other, the possibility of inherit the disease.
Given the misinformation that exists about the possibilities that your father, mother or grandparents’ Alzheimer’s disease is genetic, and therefore has a hereditary component, there is a directly proportional increase in concern and inherent uncertainty upon arrival of the disease.
The objective of this article is provide data and shed light to the situation experienced by many children and grandchildren of Alzheimer’s patients when the diagnosis arrives.
The vast majority of occasions in which Alzheimer’s disease makes its debut does so in combination of genetic and environmental factorsalthough it is true that when it is genetic there are several genes responsible for the appearance of the disease, the most important being the gene for apolipoprotein E.
None of the genes “guilty” of the disease appearing by themselves, they are the protagonists of its onset but they help, or rather, they give clues to the experts to be able to isolate the key factors that discover the path to follow in terms of therapies. Cases of Hereditary Alzheimer’s (with alterations in a single gene) represent approximately 1% of all those affected. To date, there are confirmed Three mutations in genes capable of producing Alzheimer’s: the amyloid precursor protein (APP) gene, and the presenilin 1 (PSEN1) and 2 (PSEN2) genes.
Technicalities aside, when we talk about the disease in its hereditary variant, we are also talking about a family history with dominant genetic inheritance and an early appearance of the first symptoms (before the age of 60).
Cases of Hereditary Alzheimer’s they often have the same characteristics as cases of sporadic onset of the disease. Yes, it is true, and it is scientifically proven, that individuals who present the genetic mutation that predisposes them to Alzheimer’s, present an autosomal dominant inheritance (this is when the altered gene is dominant over the normal one and a single copy is enough for it to be expressed). the disease) and early onset of symptoms, usually before the age of 60, but it may also be the case that the onset of the disease is early and its character is not genetic.
Once the descendants of the patient know these data, we enter a situation where if they wish and come to find out, the medical experts in the disease can advise them from the neurological and genetic perspective what risk they have of suffering from the disease and the suitability of undergoing a genetic study.
The variant of people who come to ask about the hereditary nature of Alzheimer’s disease and the corresponding medical tests are descendants of patients suffering from early-onset Alzheimer’s, or are people who know that there is some dominant pattern of genetic risk in the family . After receiving the information, they must be, in any case, advised by a psychiatrist and psychologist and after this step, they will be able to make the decision to have the pertinent tests carried out.
There are many ethical components that accompany the decision to request a genetic study to know the predisposition to suffer from the disease because, at this point, and knowing that today there are still no preventive therapies, it is difficult, even knowing that we can suffer from it, to get an advantage over the disease, even so, it is part of the decision to each person to know whether or not they are at risk of suffering from Alzheimer’s in the future.
For the preparation of this article, sources and research papers prepared by Dr. José L. Molinuevo, Neurologist, coordinator of the Alzheimer’s Unit and other cognitive disorders of the Hospital Clínic de Barcelona and head of the Genetic Information and Counseling Program in Alzheimer’s disease (PICOGEN) and the day hospital for neurodegenerative diseases.
About the author: Merche Cardona
Merche Cardona is Social Integrator expert in Alzheimer’s, teacher and collaborator of Supercuidadores and the University of Salamanca.
«During all the time that I have spent dealing with Alzheimer’s patients directly, I have detected that the lack of information and therefore, of expectations is one of the Achilles heels of the situation that people who are related to close with this disease, such as the caregivers or relatives of the patient.
For this expert, the main caregiver of an Alzheimer’s patient faces new situations for which no one has prepared him. “Inexperience together with the lack of training and information are a very negative tandem when it comes to dealing with the disease”.
She is the author of the blog.