Alzheimer's - Dementia, Author Interviews, JAMA, Mental Health Research, UCSF / 26.04.2013
Progranulin Mutations as Risk Factors for Alzheimer Disease
MedicalResearch.com eInterview with Dr. David Perry
UCSF School of Medicine
Clinical Fellow in Neurology
675 Nelson Rising Lane
San Francisco CA 94158
MedicalResearch.com: What are the main findings of the study?
Dr. Perry: We described two patients with clinical syndromes and brain imaging patterns that are consistent with Alzheimer’s disease. Both were found to have mutations in GRN, which are typically associated with inherited frontotemporal dementia. They both showed evidence of underlying Alzheimer’s pathology, in one case through autopsy confirmation (demonstrating Alzheimer’s disease in addition to TDP-43 pathology), and in the other case from a positive amyloid PET scan.
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