The case of the 19-year-old Chinese, described in the study published in the Journal of Alzheimer’s Disease by the team of neurologist Jia Jianping, affected by Alzheimer precoce. The boy began to show the first symptoms when he was only 17 years old: evident short-term memory deficits, study and concentration problems, reading difficulties, slowed down reactions. «If it were confirmed by further analyzes this would be the youngest patient in the world» he comments Paolo Maria Rossini, Head of the Department of Neuroscience and Neurorehabilitation of the IRCCS San Raffaele in Rome. «In reality, cases of juvenile-onset Alzheimer’s dementia are not a rarity and a novelty, but 19 years is really a record».
Alzheimer’s disease is the best known form of dementia and is the most frequent in the elderly population (over 65 years of age): 600,000 people suffer from it in Italy, about two thirds of which are women. We talk about Alzheimer precoceinstead, when symptoms begin before age 60-65. The early onset forms, therefore, are the minority and represent 10-12% of cases.
What are the causes of early Alzheimer’s?
Early onset genetic forms are caused by the presence of genetic mutations. Non-genetic ones, so-called sporadic, can be “triggered” by “collateral” events, such as major head trauma. The boy falls into this second series as he does not have the genetic mutations identified so far linked to dementia. “Unexpectedly, medical genetic tests did not show the presence of mutations in the genes that are most frequently involved in juvenile forms of Alzheimer’s,” explains the specialist.
What are the symptoms?
This early-onset form of Alzheimer’s is manifested by memory difficulties for recent eventsi attention/concentration problemsthe difficulty learning new information. These symptoms, unlike those generated by other causes (such as, for example, the anxious-depressive syndrome or psychophysical stress), begin subtly and evolve slowly over months, sooner or later being associated with other cognitive disorders, like the spatial and/or temporal disorientationthe language, calculation, judgment difficulties. The gradual onset of cognitive difficulties and the slowly but inexorably worsening trend over time are characteristic features.
How is early Alzheimer’s diagnosed?
“The young patient underwent a battery of neuropsychological tests who showed a clear memory deficit. Then to one volumetric magnetic resonancewhich revealed a volume loss of the hippocampi (the control units of some types of memory), then to a PET-FDG, which showed hypometabolism in the temporal lobes of the two cerebral hemispheres, i.e. a marked reduction in energy consumption in brain centers that are very important for memorization and learning processes,” continues the neurologist. “Also there lumbar puncture with the examination of the cerebrospinal fluid it showed an altered concentration of substances which in Alzheimer’s disease lead to the formation of beta-amyloid plaques outside the nerve cells and neurofibrillary tangles inside them».
What therapies are available?
The drugs available today are the acetylcholinesterase inhibitors and the memantina. They are not able to block the disease, but in some cases they can be beneficial, even if their action is usually transitory and exhaustible. Numerous pharmacological trials are underway aimed at blocking the progression of the disease. The most advanced and promising experimentation is testing the validity of a monoclonal antibody (Aducanumab) directed against beta-amyloid proteinwhich together with the protein value plays a fundamental causal role in the genesis of the disease, even in the early forms.
What is the quality of life?
Alzheimer’s negatively affects the length and quality of life. Cognitive deficits progress inexorably limiting the patient’s autonomy, with consequent growing dependence on their family members. There are no drugs that can prevent the disease, but a constant training of the brain (hobbies, reading, writing, social activities), proper nutrition (mainly based on the Mediterranean diet) e regular and moderate exerciseaccording to some studies they would be useful for delaying the onset of the disease and slowing down its progression.
«Alzheimer’s, like many other neurodegenerative pathologies, works in the dark even for decades and reveals itself only after all the neural and cognitive reserve represented by neurons-nervous circuits-synapses present from birth, but functionally silent, has been consumed . As if a team has many players on the bench ready to replace those who get hurt. As mentioned, this pathology works in the dark even for 25 years, and for this reason we tend to think it only affects the elderly, but that is definitely not the case. We have to understand why, in this young person in particular and in all juvenile forms in general, the neuronal/cognitive reserve was so small as to allow the onset of symptoms at a much earlier age», concludes Rossini.