Early diagnosis is the most effective tool for combating neurodegenerative disorders, and the latest technologies are helping to yield clinical findings as a basis for screenings capable of detecting the molecular-level mechanisms of possible diseases. Besides which, not all brain diseases stem exclusively from genetic causes: environmental factors, lifestyles, and learning disorders can encourage their development. In the interview presented below, Maria Luisa Gorno-Tempini, Full Professor of Neurology at the University of California, San Francisco – where she heads the Language and Neurobiology Laboratory and serves as one of the scientific leaders of the Dyslexia Center – explains to the Aspen Italia website team how steps can and why they should be taken against such diseases from an early age.
What links are there between Alzheimer’s – typically an old-age disease – and dyslexia, which is characteristically a childhood disorder?
The way the brain develops also affects how it ages. Put like that, it sounds obvious, but in reality that’s because we’re used to thinking that that is the case for other organs, like the heart. However, neurodegenerative diseases do not exclusively stem from genetic causes. For example, those people with developmental disorders, such as attention deficit, hyperactivity, or dyslexia, may compensate for them in adulthood, but then, as the years pass, the cerebral network involved in the developmental disorder can lead to increased risks of specific symptoms arising.
In order to understand the relationship between a neurological symptom and a neurodegenerative disease, it is useful to study the functional mechanisms of the brain. In particular, so-called atypical neurodegenerative diseases, that is, those that develop at an early age, allow us to more easily pinpoint the cells responsible for a degenerative condition. In fact, in younger brains, there are fewer factors that can influence the development of the disease.
How are the mechanisms behind the formation of neurodegenerative diseases identified?
At the University of California, San Francisco Memory and Aging Center, we start with clinical signs, and, in particular, with what we term “brain susceptibility factors”. These vary according to the patient: some, for example, have impaired memory, while others have language difficulties. These days, we are able to proceed from the information gleaned from a skin cell to go on to study the neurons, thanks to a personalized approach that enables us to work from the clinical symptoms to arrive at the molecular mechanisms and the DNA level.
To achieve this, we use statistical analysis methods and new neuroimaging technologies that are capable of revealing certain molecules that get deposited on the brain. These new tools help us a lot: before, we could only obtain an image of the brain, but now, by analyzing the data provided by new diagnostic technologies, we are able to study and compare the cerebral functioning of hundreds of people.
What is the purpose of these studies?
There is much optimism regarding the release of drugs for the treatment of neurodegenerative diseases, but in all cases early diagnosis remains essential. The new molecular neuroimaging methods enable us to carry out more accurate analyses, allowing us to intervene to treat diseases earlier. However, while this type of screening and mapping will become increasingly more accessible in the future (including online, via telemedicine), this doesn’t mean that we should forget the importance of active and healthy aging.
Even with neurodegenerative disorders, prevention is key. We know that acting on the risk factors, which are similar to those for cardiovascular conditions, can significantly decrease the chances of or delay the onset of such diseases. So, regular exercise, good diet, intellectual and social activity, and avoidance of harmful habits such as smoking, are all factors that can considerably enhance the “cognitive reserve” that each of us is born with.
These factors become even more important if there is a family history, or a genetic or molecular structure that is at risk. Assessing all these elements in each subject and preparing a plan for successful aging is the basis of so-called “personalized medicine” tailored to the individual.
What’s the situation with research into neurodegenerative diseases in Italy?
In Italy, there are many high-level researchers and clinicians but few resources. This can create rivalries when what is actually needed is collaboration. I think that, on the one hand, it’s crucial that something be done about funding, perhaps by promoting virtuous mechanisms like philanthropy, which is the bedrock of a large part of research in the United States. On the other hand, it’s essential to create collaborative networks in which several researchers are jointly engaged in the same project. Given the complexity of this field, one person is not able to achieve significant results alone and teamwork is needed.
Lastly, another key issue is that of ensuring work flexibility for researchers. In the United States, researchers can “buy themselves” teaching hours and thereby come up with funds to devote themselves to research for a period of time. This is more difficult to do in Italy, and often rigidity and red tape hamper the work of many talented researchers.
