Calahorra Hospital Finds Excess Patients With New Familial ALS Gene

An investigation was then launched in which, in addition to the Sant Pau Research Institute and the Sant Pau Hospital, three neurologists from La Rioja collaborated: María Soledad García de Carlos from the Calahorra Hospital, as well as María Ángeles López Pérez and Olga Blasco, both employees of the San Pedro Hospital, although the latter was at the Calahorra Hospital Foundation when the cases were identified.

The beginning was almost part of a protocol that, although not standardized, is widespread. Typically, explains López Pérez, when a patient is found to have this pathology, a second opinion is offered not only to those with what is called familial ALS, which occurs when the patient has at least two first or second-degree relatives with the disease, but also to those with sporadic ALS, that is, those who suffer from it almost by chance. That is when they are referred from La Rioja to the Hospital de Sant Pau, a reference center and leader in this specialty. And there, after studying the cases from La Rioja Baja and ruling out the presence of gene mutations known at that time, they discovered a new genetic change that causes ALS.

The victims, the neurologist explains, are not immigrants, they are from the same area and descendants of it. Given this statement, it is worth asking whether the geographic area has an effect. The answer is yes, but not because it is this particular area or because there is an environmental component, but because, as is the case with many hereditary diseases, being small towns, neighbors are interconnected with each other and, in the end, many families come from the same ancestors. The consequence of this is that “several genetic diseases accumulate in certain areas.”

Today, between 5 and 15 percent of ALS cases have a hereditary component, while the rest are sporadic, meaning it is unknown why they occur. “That is why it is important to find genetic changes in these families, because then we know what went wrong, what triggered the onset of the disease, and that can help patients with hereditary ALS and people with sporadic ALS,” he says.

In La Rioja, there are currently between 40 and 50 patients diagnosed with the disease, who are treated in a multidisciplinary unit made up of a pulmonologist, a neurologist, a nutritionist, with the support of a palliative care specialist, a social worker and a psychologist. The Achilles heel, not only in La Rioja but in most areas, says López Pérez, is rehabilitation, because these are patients who require much more physical and speech therapy support. “There comes a time when they cannot leave their home, and the ideal would be to be cared for at home, a service that does not currently exist.”

These patients, whose life expectancy is between 3 and 5 years – only one in four can survive more than 5 years, and ALS with a bulbar profile has a shorter life expectancy – also have the support of associations, where they try to mitigate the shortcomings. Administration, although “I think it should be within the system.”