The gold-standard for the diagnosis of Frontotemporal degeneration (FTD) is microscopic examination of the brain at autopsy, as physicians cannot definitively determine which type of protein inclusion (neuropathology) is the cause for a patient’s cognitive and behavioral problems during life. This is because multiple types of protein inclusions (including Alzheimer’s disease-associated plaques and tangles) can mimic FTD symptoms, depending on their location in the brain. Comparative studies of clinical, neuroimaging, and biofluid data from patients with autopsy-confirmed FTD clinical-pathological correlations (add link to CCP page) are crucial to our understanding of the biology of FTD, and this is an essential step in developing effective treatments for FTD. Also, investigators at the Penn FTD Center are actively researching the development of biomarkers (add link to biofluid page) in blood and cerebrospinal fluid to help identify the underlying neuropathology in patients during life so that the rapidly emerging new therapies targeting these specific diseases can be correctly applied to FTD patients. These studies are performed by analyzing biomarker data in patients who have received a definitive diagnosis at autopsy.
Patients seen at the Penn FTD Center have a unique opportunity to participate in this important brain donation program, done in coordination with our internationally-recognized colleagues in the Department of Pathology and Laboratory Medicine at the Penn Center for Neurodegenerative Disease Research (CNDR). Autopsy is performed in a sensitive manner that does not preclude most funeral practices, and a final neuropathlogical report is made available to participating families.
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Center for Neurodegenerative Disease Research