The two FTD patients under investigation in this study were part of a longitudinal dementia research program at the Memory and Aging Center, University of California, San Francisco. Both had an 8-year history of behavioral changes and memory impairment at the time of tissue collection for this study. One patient, a 67-year-old male with sporadic FTD, tested negative for mutations in GRN, MAPT, and C9ORF72. The other patient, a 64-year-old male with a significant family history of dementia, had behavioral variant FTD. MRI in this patient demonstrated severe bifrontal and temporal atrophy associated with gliosis in the frontal lobes (greater on the right). One year later, MRI scans showed progression of atrophy and gliosis. Genetic testing revealed a novel nonsense mutation in GRN, p.S116X (g.4627C > A, c.347C > A), which is predicted to result in a premature stop codon. Both FTD patients had parkinsonism, which is typical of all FTD patients with PGRN mutations. An age-matched subject, a clinically normal 64-year-old male with no mutations in GRN, MAPT, or C9ORF72, served as a control.
FTD patients
two
two FTD patients
history of behavioral changes and memory impairment
8-year
year
patient
old
67-year-
year
other patient
old
64-year-
year
MRI scans
showed progression of atrophy and gliosis
One year
year
age-matched subject
old
64-year
year