Skip to main content

Table 1 Cases studied

From: Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

Case Group Sex Age at death PMI (hours) Clinical Diagnosis Primary Path Diagnosisa Alzheimer’s disease neuropathologic change Thal Amyloid Plaque Phase Braak Neurofibrillary Degeneration Stage CERAD Neuritic Plaque Score LBD Stage GBA Variants Other Path Diagnosisb
1 Ctrl F 86 6.4 Control N/A Not 0 2 Absent Brainstem predominant nd AGD, limbic; VBI
2 Ctrl F 81 30.3 MCI, amnestic PART Low 1 2 Absent 0 negative None
3 Ctrl M 76 8.2 Control N/A Low 1 2 Sparse 0 nd AGD, limbic
4 Ctrl M 77 4.9 MCI, executive AGD Low 2–3 2 Sparse 0 nd VBI, microinfarct in cerebellar folia
5 Ctrl F 86 7.8 Control N/A Low 1 2 Moderate 0 nd VBI, microinfarcts in claustrum and angular gyrus; AGD
6 GRN F 59 9.5 CBS FTLD-TDP-A Low 2 1 Frequent 0 negative CAA
7 GRN M 66 10.1 DLB,? bvFTD LBD Not 0 2 Absent Diffuse neocortical type negative Incipient FTLD-TDP-A
8 GRN M 64 7.2 bvFTD FTLD-TDP-A Not 0 2 Absent 0 nd None
9 GRN M 72 23.8 PPA-mixed FTLD-TDP-A Not 0 0 Absent 0 negative Subdural hematoma
10 GRN M 74 30.9 nfvPPA, CBS FTLD-TDP-A Intermediate-High 2–5 4–5 Moderate 0 negative None
11 GRN F 73 20.7 nfvPPA, CBS FTLD-TDP-A Not 0 2 Absent 0 nd None
12 GRN F 66 7.4 bvFTD FTLD-TDP-A Low 1 0 Sparse 0 nd VBI, microinfarcts in putamen
  1. PMI, postmortem interval, MCI Mild cognitive impairment, CBS Corticobasal syndrome, DLB Dementia with Lewy bodies, bvFTD Behavioral variant frontotemporal dementia, PPA Primary progressive aphasia, nfv nonfluent variant, PART Primary age-related tauopathy, AGD Argyrophilic grain disease, LBD Lewy body disease, VBI Vascular brain injury, CAA Cerebral amyloid angiopathy, nd = data not available
  2. aDisease considered most likely to explain the clinical syndrome
  3. bNo subject had limbic TDP-43 proteinopathy (except those with FTLD-TDP)