Rafael Blesa, director of the Neurology Service of the Hospital de la Santa Creu i Sant Pau in Barcelona and full academician of the Royal European Academy of Doctors-Barcelona 1914 (RAED), leads a study published in the latest issue of the magazine “The Lancet Neurology “, a benchmark in neurology, which lays the foundation for the early detection of Alzheimer’s in people with Down syndrome. It’s the discovery of a biomarker that is detected with a simple blood test and that allows an early diagnosis by calculating the levels in the blood plasma and cerebrospinal fluid. The work has had the participation of the Catalan Down Syndrome Foundation and the Social Work of La Caixa and has determined that 85% of people with Down syndrome end up developing Alzheimer’s disease.
“The process begins 20 years before the onset of the first symptoms, when there is an alteration in the amyloid protein, and now, through a lumbar puncture, we can know what is happening in a person’s brain and detect the disease for many years before it manifests”, explained the academician. “The program that is currently being developed with people with Down syndrome will help to know the complexity of this disease, because only knowing it can we effectively fight it, the key is to make an early diagnosis”, he added.
Currently, the diagnosis of Alzheimer’s in people with Down syndrome is very limited due to the difficulty in identifying the symptoms given the high variability of the degree of intellectual disability they may suffer. Hence, being able to make a rapid and effective diagnosis by detecting a biomarker is a significant advance that will mark the incidence and development of the disease in these patients.