Alejandro Valenzuela, postdoctoral bioinformatician at Ace Alzheimer Center Barcelona, presents at the international AD/PD™ 2026 congress (March 17–21, Copenhagen) a study revealing rare genetic variants shared between progressive supranuclear palsy (PSP), a rare disease affecting movement and balance, and Parkinson’s disease.
There, experts from around the world share new discoveries to help people living with these conditions and their families access better diagnostic and treatment options.
Context of PSP and the need for this research
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease that causes difficulties in walking, eye movement and balance, with symptoms that progressively worsen quality of life. Although some risk factors are known, much of its genetic basis remains unexplained, limiting early diagnosis and personalized treatments.
In Parkinson’s disease, a more widely known condition that also affects movement, some studies suggest similar biological mechanisms, but more evidence is needed to fully understand these connections and develop shared strategies.
Alejandro Valenzuela’s innovative study
The study “Exome-wide rare variant analysis provides pathogenic links between progressive supranuclear palsy and Parkinson disease” analyzes the genetic code (exome) of 220 individuals with PSP, 134 with neuropathological confirmation, and 79 healthy individuals from a Spanish-Portuguese cohort.
The results identify rare genetic changes in genes such as TUBA3E, IGF2R, FNDC1 and PACRG, related to neuronal structure (microtubules), brain information transport and synaptic integrity. These findings suggest shared mechanisms between PSP and Parkinson’s disease, opening the door to more precise diagnoses and potential common treatments.
AD/PD 2026, a global stage for innovation
AD/PD™ 2026, one of the leading congresses in neurodegeneration, brings together international experts to share advances in basic research, diagnosis and therapies. Alejandro Valenzuela’s participation reinforces Ace’s position as a leader in dementia genetics, fostering collaborations that translate knowledge into clinical practice.
This approach aligns Ace with global priorities: rigorous, collaborative research aimed at improving the lives of people with dementia and their families.
