A study led by Ace Alzheimer Center Barcelona identifies a new gene linked to a rare neurodegenerative disease

The study, published in the European Journal of Human Genetics, combines data from more than 3,000 patients and is the largest genetic analysis of PSP to date

INFORMATIVE NOTE

Barcelona, ​​May 19, 2025

• The finding of the NFASC gene as a possible key to the origin of progressive supranuclear palsy (PSP) opens new avenues for the future treatment of this brain disease.
• The study, published in the European Journal of Human Genetics, combines data from more than 3,000 patients and is the largest genetic analysis of PSP to date.
• The study also confirms the association of eight other genes previously associated with PSP and opens avenues to improve the clinical diagnosis of this brain disease, especially in cases with an atypical presentation.

A scientific team led by Ace Alzheimer Center Barcelona has identified a new gene involved in progressive supranuclear palsy (PSP), a rare neurodegenerative disease caused by the abnormal accumulation of a protein called tau in the brain, which causes damage to neurons and progressive deterioration of motor and cognitive functions, such as balance, eye movements, cognition and behavior of those who suffer from it. The research has been coordinated by Pablo García González, researcher at Ace Alzheimer Center Barcelona and lead author of the study, under the scientific direction of Dr. Agustín Ruiz, research director at Ace Alzheimer Center Barcelona.

The study, published in the prestigious scientific journal European Journal of Human Genetics, points to the NFASC gene as a new risk factor for the disease. This gene encodes proteins essential for the communication and protection of nerve cells in the brain. Specifically, these proteins are involved in the formation of the myelin sheath, a layer that surrounds the neuronal projections responsible for transmitting information and facilitates the rapid transmission of electrical signals. The detection of this gene as a new risk factor in the development of PSP opens the door to future therapies aimed at improving communication between cells in the nervous system.

Furthermore, this finding suggests that PSP may not be an exclusively neuronal disease, but could also be related to dysfunctions in other brain cells, such as oligodendrocytes (responsible for generating and maintaining myelin). This hypothesis reinforces the idea that interactions between neurons and glial cells are essential in the origin of many neurodegenerative diseases.

“This study changes the way we understand PSP. It gives us clear clues about new biological mechanisms that we could take advantage of to develop future treatments for these orphan diseases,” explains Dr. Agustín Ruiz, Director of Research at Ace Alzheimer Center Barcelona. He adds: “This finding also reinforces Ace Alzheimer Center Barcelona's commitment to personalized medicine research, expanding our field beyond Alzheimer's to address other neurodegenerative diseases such as PSP”.

In addition to the new gene identified, the study has replicated the association of eight other genes previously related to PSP, such as MAPT, MOBP, APOE or DUSP10, among others, which consolidates the genetic map of this rare disease. Thanks to the collaborative network effort of Spanish and Portuguese research groups and entities (DEGESCO and the ISCIII Biomodels and Biobanks Platform) the researchers were able to validate these results with great confidence.

For this purpose, the largest genetic database of PSP in Europe has been generated. Specifically, the genome of 522 people with PSP in Spain and Portugal, clinically diagnosed or confirmed by autopsy, was compared with that of 1.950 healthy people. Subsequently, the team extended the analysis with data from other international investigations, reaching a total sample of more than 3,000 PSP patients and 11,000 control individuals.

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