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

Table 1 Cases studied

Case	Group	Sex	Age at death	PMI (hours)	Clinical Diagnosis	Primary Path Diagnosis^a	Alzheimer’s disease neuropathologic change	Thal Amyloid Plaque Phase	Braak Neurofibrillary Degeneration Stage	CERAD Neuritic Plaque Score	LBD Stage	GBA Variants	Other Path Diagnosis^b
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

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
^aDisease considered most likely to explain the clinical syndrome
^bNo subject had limbic TDP-43 proteinopathy (except those with FTLD-TDP)

ISSN: 2051-5960