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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).
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
FTD Family Members Study
Why is this important?
male
female
male affected by a dementia
Deceased female who was affected by a dementia
Family Tree Key
Family History #1
D: 57 D: 89
D: 69Dx: FTD
D: 78Dx: FTD
D: 65Dx: FTD
D: 62Dx: FTD
D: 77Dx: FTD
Age: 65Dx: FTD
D: 82 D: 79 D: 74 Age: 78 Age: 73 Age: 73 D: 82 Age: 79
Age: 40 Age: 35Age: 36
male
female
male affected by a dementia
deceased female who was affected by a dementia
Family Tree Key
anonymized to protect confidentiality
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
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