Frontotemporal Dementia (FTD) is as common as Alzheimer's Disease in people less than 65 years of age. FTD includes a spectrum of related disorders such as Pick's disease, corticobasal degeneration, and progressive supranuclear palsy. The purpose of our research is to develop of better understanding of FTD and related conditions.
Information collected will advance the knowledge of what causes this condition, lead to improved diagnostic testing and support the development of treatment trials for FTD. Since this research is supported by the National Institutes of Health, there is no cost for participation.
We study FTD in a variety of ways using:
- Neuropsychological Testing
- Cerebrospinal Fluid (CSF)
- Brain Tissue Donation Program
The purpose of this research study is to better understand the genetic basis for FTD. Knowledge gained from genetic research and family history studies is important for the development of improved diagnostic tests and new therapies.
A certified genetic counselor will take a detailed family history as well as the collection of a blood sample to study genes associated with this condition. The blood sample is used in the research laboratory to study an individual's DNA for genes that could potentially either cause disease or influence an individual's risk for disease.
A critical test for the diagnosis of a neurodegenerative condition is neuroimaging. Through magnetic resonance imaging (MRI) we look at the parts of the brain affected by the condition, and how this progresses over time. We develop unique neuroimaging approaches that relate brain changes to specific components of language and cognitive process. We correlate atrophy, or brain shrinkage, with cognitive function and look directly at brain activity with functional MRI. Information collected will aid in diagnostic accuracy, develop reliable prognostic algorithms and serve as the basis for the development of behavioral therapies.
Composite Functional MRI
Neuropsychological tests measure memory, concentration, visual-spatial, problem solving, basic math, and language skills. This testing can differentiate depression from dementia, and can help in the diagnosis of specific types of dementia or brain disorders. For example, someone with Alzheimer disease will show significant deficits in tests of memory while someone with FTD can do fairly well with memory but have more difficulty on language skills.
We evaluate memory, language, social and cognitive difficulties through paper-and-pencil and computer testing. The testing is divided into several small sections, so there will be frequent rest periods, and the testing can be continued during another session. Depending on your location, we have research specialists who can come to your home for your cognitive testing. This work will improve diagnostic accuracy and behavioral therapy for patients.
Cerebrospinal Fluid (CSF)
Our brains produce an abundant amount of cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). The fluid can be studied for rare infections and cancer that can cause symptoms of dementia. These tests are important because the treatments for infections and cancer are very different.
We measure the levels of various proteins such as tau in the CSF. Tau is a protein that normally supports the brain's nerve cells. In FTD, there may be an abnormal amount of tau in the cerebral spinal fluid. The CSF is obtained by a lumbar puncture, or spinal tap. This testing will aid in diagnosis and prognosis of FTD. Learn more about the procedure.
Brain Tissue Donation Program
Autopsy examination serves a critical role in quality of medical care by confirming and correcting a clinical diagnosis, and aids in establishing treatment. This is the most important way to develop treatment for the abnormal accumulation of proteins like tau. Learn more about the importance of autopsy examination.
The University of Pennsylvania Alzheimer's Disease Core Center (ADCC) and the Center for Neurodegenerative Disease Research (CNDR) maintain tissue banks funded by NIH (NIA, NINDS) for human brain samples obtained from patients with Alzheimer’s disease (AD), Parkinson's Disease (PD) and Frontotemporal conditions.
Lauren M. Massimo, MSN, CRNP
Clinical Research Coordinator
3400 Spruce Street
Department of Neurology
3 West Gates Building
Philadelphia, PA 19104-4283