This DRPLA Center of Excellence was accredited to Dr Berta Alemany Perna and Dr Daniel López Domínguez from the Josep Trueta Hospital in Girona and the Santa Caterina Hospital in Salt on August 8, 2026.
Clinical Services
Patients with DRPLA have access to multidisciplinary rehabilitation and supportive care services at the Josep Trueta Hospital and the Santa Caterina Hospital. Care is coordinated through regular multidisciplinary meetings to ensure comprehensive management tailored to individual patient needs.
These clinical services include:
- Physical rehabilitation (provided by rehabilitation physicians)
- Cognitive rehabilitation (provided by neuropsychologists specializing in neurodegenerative diseases)
- Psychology, psychiatry, and functional therapy services
- Genetic diagnostic testing and genetic counseling for patients and at-risk family members
In addition, patients and their families are informed about CureDRPLA and other ataxia-related organizations, encouraged to participate in research studies, and kept updated on the latest advances in DRPLA research.
About the Applicants
Dr Berta Alemany Perna and Dr Daniel López Domínguez are active participants in the DRPLA Natural History and Biomarkers Study (NHBS), where they are involved in patient recruitment, diagnostic evaluations, and clinical assessments of both carriers and controls.
They have extensive experience in the clinical management, treatment, and research of hereditary neurogenetic ataxias. Their research activities include participation in a clinical trial evaluating calcitriol in Friedreich’s ataxia and involvement in multiple international studies, particularly focused on cognition and ataxias, which have resulted in numerous scientific publications.
Both applicants regularly attend national and international scientific meetings and congresses. They also maintain active engagement with patients and families with ataxia, including DRPLA, through collaborations with the Spanish Federation of Ataxias (FEDAES), annual educational and outreach meetings, and the development of quarterly meetings with national ataxia and neurogenetics specialists aimed at improving patient education and dissemination of information on hereditary neurodegenerative ataxias.
Contact Information
You can reach Dr Berta Alemany Perna at balemany.girona.ics@gencat.cat or by calling +34 677 00 00 23.
You can reach Dr Daniel López Domínguez at dalopez.girona.ics@gentcat.cat or by calling +34 606 23 63 68.