Key facts
- Hospital Clinic says it is the leading centre in Catalonia for the biological diagnosis of prion diseases and also receives samples from patients in other parts of Spain.
- Listed diagnostic tools are CSF 14-3-3 protein, PRNP gene study and post-mortem study, with MRI, FDG PET, EEG and polysomnography for diagnosis and follow-up; the team includes neurologists, neuropsychologists, a speech therapist, nurses and social workers.
- The PICOGEN programme gives genetic counselling for familial dementias, informs relatives in genetic prion disease families about inheritance, and offers carrier testing and reproductive support.
- A prion research project led from the IDIBAPS Alzheimer and other cognitive disorders group was funded in 2021 with about 223,000 euro of public micro-donations.
- That five year project follows symptomatic and asymptomatic carriers of genetic prion disease mutations with neuroimaging and fluid biomarkers, adds RNA, epigenetic and biochemical work on stored samples, and invites families with genetic CJD, GSS or FFI and early-stage patients to volunteer through the unit.
- Raquel Sanchez-Valle has led the IDIBAPS group since 2018, was Head of Neurology from 2018 to 2023, and has been Medical Director of Clinic Barcelona since January 2024; she is PI of an ISCIII funded genetic dementias project (2021 to 2025) that includes prion diseases.
- Work on CSF 14-3-3 testing goes back at least to 1997: a 2003 University of Barcelona thesis by Sanchez-Valle found requests to the laboratory rose from 1997 to 2000 while the positive predictive value fell, and found no variant CJD in Catalonia in 1993 to 2001.
- A 2025 study led by the hospital Immunology Department pooled 157 suspected sporadic CJD patients from 38 Spanish hospitals; CSF RT-QuIC had 92.1 percent sensitivity and 98.9 percent specificity against 73.0 and 62.8 percent for 14-3-3.
- The hospital Immunology laboratory was one of the 13 laboratories in the 2022 European CJD Surveillance Network CSF RT-QuIC concordance study.
- The Neurological Tissue Bank was created in 1988, recognised by the Catalan government in 1992 and joined the IDIBAPS Biobank in 2011; in April 2023 it had 2,300 donations and more than 250,000 samples, with CJD among the conditions held.
- The tissue bank makes a detailed neuropathological diagnosis and sends it to the referring doctor and the donor family, and belongs to EBRAINS and the ISCIII national biobank platform working group.
- Clinic and IDIBAPS staff coauthored the 2021 TREM2 prion paper with IDIBELL, Goettingen and ISS Rome, the 2022 Brain study of CSF markers in 302 genetic prion disease cases, and the 2022 description of the sporadic CJD VM1 subtype with Bologna, Vienna, ISS Rome and Toronto.
- The Sleep Center published video-polysomnography of 11 fatal insomnia patients studied from 2002 to 2017 and a 2023 sleep study of three GSS cases with the Alzheimer unit.
- The unit trains neurology residents and coordinates a dementia module of the University of Barcelona Master of Advanced Medical Competences.
Timeline
- 1988Neurological Tissue Bank created under the University of Barcelona.
- 1992Tissue bank officially recognised by the Government of Catalonia.
- 1997to 2000 CSF 14-3-3 test requests to the laboratory rise year on year.
- 2003Doctoral thesis on biodiagnosis of human prion disease in Catalonia.
- 2011Tissue bank joins the IDIBAPS Biobank.
- 2018Sanchez-Valle becomes Head of Neurology and IDIBAPS group leader.
- 2021TREM2 in prion disease paper with IDIBELL, Goettingen and ISS published online.
- 2021CJD patient information, research and teaching pages published.
- 2021Donor-funded CJD research project announced.
- 2022European network RT-QuIC concordance paper with the Clinic laboratory published.
- 2022Sporadic CJD VM1 subtype paper published.
- 2022Fatal insomnia sleep study published online.
- 2023Tissue bank reports 2,300 donations.
- 2024Sanchez-Valle becomes Medical Director of Clinic Barcelona.
- 2025Spanish multicentre RT-QuIC versus 14-3-3 study published online.
Sources for this page
- Hospital Clinic Barcelona news: thanks to donors for commitment to research into Creutzfeldt-Jakob disease (23 December 2021)
- Hospital Clinic Barcelona (PortalClinic): Creutzfeldt-Jakob disease, The disease at the Clinic
- Hospital Clinic Barcelona (PortalClinic): Creutzfeldt-Jakob disease research at the Clinic
- Hospital Clinic Barcelona professional profile: Raquel Sanchez-Valle
- Universitat de Barcelona repository: Sanchez del Valle Diaz R (2003) Biodiagnostico de las enfermedades por priones humanas, doctoral thesis
- Concordance of CSF RT-QuIC across the European CJD Surveillance Network (Eur J Neurol 2022)
- Biobank of the Hospital Clinic of Barcelona - IDIBAPS: Neurological Tissue Bank (NTB) page
- Hospital Clinic Barcelona news: The Clinic-IDIBAPS Neurological Tissue Bank reaches 2,300 donations (28 April 2023)
- Hospital Clinic Barcelona (PortalClinic): Teaching of Creutzfeldt-Jakob disease at the Clinic
