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Table 1 Cases studied

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

CaseGroupSexAge at deathPMI (hours)Clinical DiagnosisPrimary Path DiagnosisaAlzheimer’s disease neuropathologic changeThal Amyloid Plaque PhaseBraak Neurofibrillary Degeneration StageCERAD Neuritic Plaque ScoreLBD StageGBA VariantsOther Path Diagnosisb
1CtrlF866.4ControlN/ANot02AbsentBrainstem predominantndAGD, limbic; VBI
2CtrlF8130.3MCI, amnesticPARTLow12Absent0negativeNone
3CtrlM768.2ControlN/ALow12Sparse0ndAGD, limbic
4CtrlM774.9MCI, executiveAGDLow2–32Sparse0ndVBI, microinfarct in cerebellar folia
5CtrlF867.8ControlN/ALow12Moderate0ndVBI, microinfarcts in claustrum and angular gyrus; AGD
6GRNF599.5CBSFTLD-TDP-ALow21Frequent0negativeCAA
7GRNM6610.1DLB,? bvFTDLBDNot02AbsentDiffuse neocortical typenegativeIncipient FTLD-TDP-A
8GRNM647.2bvFTDFTLD-TDP-ANot02Absent0ndNone
9GRNM7223.8PPA-mixedFTLD-TDP-ANot00Absent0negativeSubdural hematoma
10GRNM7430.9nfvPPA, CBSFTLD-TDP-AIntermediate-High2–54–5Moderate0negativeNone
11GRNF7320.7nfvPPA, CBSFTLD-TDP-ANot02Absent0ndNone
12GRNF667.4bvFTDFTLD-TDP-ALow10Sparse0ndVBI, 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)