Where to Turn for Research: Human Studies of eFAD


Back to the Top

Unidad de Alzheimer y Otros Trastornos Cognitivos Hospital Clinic/Villarroel, Barcelona, Spain

Titled "Preclinical study of mutations causing monogenic dementia: cognitive performance, MRI study of brain volume and connectivity, CSF markers," this is an observational study to investigate the presymptomatic and early stages of the development of monogenetic dementias. It invites all adult volunteers in families who have an autosomal-dominant inheritance pattern of AD or other monogenic dementias, i.e., frontotemporal dementia or prion diseases. Families where a mutation has been identified in one affected relative can enter the study. Both mutation carriers and unaffected siblings may enter the study. Confidential genetic testing is performed as part of the research study; participants can decide whether they do or do not want to know their genetic status. For those who do, genetic counseling and, if desired, genetic testing are available free of charge. Starting in November 2008, this study plans follow-up visits in three years. Assessments at the clinic take two days but can be scheduled over three or four half days upon request.

Study Leaders/Contacts
Raquel Sanchez-Valle 
Unidad de Alzheimer y Otros Trastornos Cognitivos Hospital Clinic/Villarroel 170. 08036 
Barcelona, Spain 
E-mail: rsanchez@clinic.ub.es 
Fax: 34-932275783


  • Clinical evaluation.
  • Neuropsychologic testing for early cognitive changes.
  • Neuroimaging: structural and functional MRI.
  • Blood and CSF study of biochemical markers.
  • Genetic counseling and genetic testing if requested (optional).

Family Support
The study can arrange and pay for traveling for volunteers living outside Catalonia, if necessary. The study offers follow-up after the study itself has ended. Interested families can contact Dr. Sanchez-Valle to be put in touch with a family who is working with this group of physician-scientists and is willing to share its experience confidentially.