1 / 13

FTD Family Members Study & Post Mortem Study

FTD Family Members Study & Post Mortem Study. Alyson Negreira MGH Frontotemporal Disorders Unit. Topics. FTD Family Members Study Post Mortem Imaging Study. Topics. FTD Family Members Study. FTD Family Members Study. FTD Family Members Study—Phase 1

darren
Download Presentation

FTD Family Members Study & Post Mortem Study

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. FTD Family Members Study & Post Mortem Study Alyson Negreira MGH Frontotemporal Disorders Unit

  2. Topics • FTD Family Members Study • Post Mortem Imaging Study

  3. Topics • FTD Family Members Study

  4. FTD Family Members Study • FTD Family Members Study—Phase 1 • We have begun a study that investigates the heritability, genetics, and expression of FTD in families in which a patient with FTD has 1 or more blood relatives that are/were affected by a dementia or other neurodegenerative disease (e.g., Parkinson’s, ALS, etc). . • Primary goal: • To identify new genes involved in the inheritance of FTD • To better understand the effects of known genes on the expression of FTD • To identify the earliest changes in cognitive/neurologic function in family members who were initially unaffected but who develop symptoms • Procedures: • Detailed review of family history • NACC (National Alzheimer’s Coordinating Center) - involves an annual clinical assessment, neurologic exam, and neuropsychological assessment to measure and monitor cognitive functioning • Harvard Biomarkers Study - a blood draw including testing for different genes and proteins (research, not clinical).

  5. FTD Family Members Study • FTD Family Members Study—Phase 2 • We are working to add two new components to the study. • Neuroimaging study: • To identify changes in brain structure or function (using fMRI & PET) in individuals as the symptoms of FTD begin to develop • To try to identify these changes prior to the development of symptoms • Procedures would involve scans every 1-2 years in family members • iPS study: • Induced pluripotent stem cells… • --skin biopsy (minor procedure, local anesthesia) • --skin cells grown in lab, transformed into brain cells • --can be investigated to identify molecular problems in that individual

  6. FTD Family Members Study • Why is this important? Family Tree Key male female male affected by a dementia Deceased female who was affected by a dementia

  7. Family Tree Key male D: 57 D: 89 female male affected by a dementia deceased female who was affected by a dementia D: 69 Dx: FTD D: 78 Dx: FTD D: 62 Dx: FTD Age: 73 D: 82 Age: 78 Age: 73 D: 77 Dx: FTD D: 79 D: 65 Dx: FTD D: 74 D: 82 Age: 79 Age: 65 Dx: FTD Age: 40 Age: 36 Age: 35 Family History #1 anonymized to protect confidentiality

  8. Topics • FTD Family Members Study • Questions?

  9. Topics • Post Mortem Imaging Study

  10. MGH Brain Bank Procedures • Currently: • Detailed pathology analysis is performed after death • We review report with family • Pathology reports let families know what the underlying protein is that was causing the dementia • Various types of research is done with brain tissue • Why is this important? • Pathology reports: • In some cases, a patient can present with features of FTD, however upon autopsy they have Alzheimer’s Disease pathology

  11. FTD Post Mortem Imaging Study • Primary Goal: • To better link imaging measures that can be obtained in living people to measures of brain pathology that can only be obtained after death Procedures: • A series of MRI scans at higher and higher resolution (whole brain, targeted portions of brain most affected by disease) • Photographs of brain sections (can be aligned with scans) • Use these methods to link the two types of measures

  12. FTD Post Mortem Imaging Study • FTD Post Mortem Imaging Study • Questions?

  13. Thank you! • Thank you for your attention!

More Related