Table 1.
Description of the GRN mutation and control cases used in the initial study (Study A, No. 1–7) and the additional cases used in the second study (Study B, No. 8–26).
| Case No. | Gender | Age at death | Clinical diagnosis | Pathological diagnosis | Mutation (cDNA) | Mutation (Protein) | APOE | Tau haplotype | Brain weight (g) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 54 | AD/PiD | FTLD-TDP Type A/HS | c.1252C > T | p.R418X | n.d. | H1/H2 | 980 |
| 2 | F | 56 | FTD/AD | FTLD-TDP Type A/LBD | c.1477C > T | p.R493X | n.d. | n.d. | 940 |
| 3 | F | 72 | AD | FTLD-TDP Type A/AD | c.1A > C | p.0 | n.d. | H1/H1 | 1120 |
| 4 | M | 55 | AD | FTLD-TDP Type A/HS/LBD | c.1477C > T | p.R493X | n.d. | H1/H1 | 800 |
| 5 | M | 73 | Myeloid leukemia | Age changes only | None | None | n.d. | n.d. | 1240 |
| 6 | M | 76 | Multiple myeloma | n.d. | n.d. | 1375 | |||
| 7 | M | 79 | Prostate cancer | n.d. | n.d. | 1428 | |||
| 8 | F | 71 | FTD | FTLD-TDP Type A | c.1355delG | p.V452WfsX38 | E3/E3 | H2/H2 | 955 |
| 9 | F | 61 | FTD | c.1477C > T | p.R493X | n.d. | n.d. | 900 | |
| 10 | F | 66 | FTD | c.1402C > T | p.Q468X | E3/E3 | H1/H1 | 1100 | |
| 11 | F | 71 | PNFA | c.388_391delCAGT | p.Q130Sfs124 | E3/E3 | H1/H1 | 863 | |
| 12 | M | 66 | FTD | c.1477C > T | p.R493X | E3/E3 | H2/H2 | 1495 | |
| 13 | M | 73 | Prog Anomia | c.90_91insCTGC | p.C31LfsX34 | E3/E3 | n.d. | 1250 | |
| 14 | M | 71 | CBD/PAX | c.1355delG | p.V452WfsX38 | E3/E4 | H2/H2 | 925 | |
| 15 | M | 73 | PiD | c.388_391delCAGT | p.Q130Sfs124 | E3/E3 | n.d. | 980 | |
| 16 | M | 72 | PNFA | c.1355delG | p.V452WfsX38 | E3/E4 | H1/H2 | 870 | |
| 17 | M | 66 | Narcolepsy | Age changes only | None | None | n.d. | n.d. | 1221 |
| 18 | F | 63 | Spinal muscular atrophy | n.d. | n.d. | 1221 | |||
| 19 | M | 51 | Sch | n.d. | n.d. | 1332 | |||
| 20 | M | 50 | Candidal meningitis | n.d. | n.d. | 1300 | |||
| 21 | F | 53 | Atypical psychosis | n.d. | n.d. | ? | |||
| 22 | M | 63 | Sch/Parkinson’s syndrome | n.d. | n.d. | ? | |||
| 23 | M | 51 | Sch/Aspiration pneumonia | n.d. | n.d. | 1494 | |||
| 24 | M | 60 | Sch/Aspiration pneumonia | n.d. | n.d. | 1435 | |||
| 25 | M | 63 | Sch/Pseudomonas aeruginosa pneumonia | n.d. | n.d. | 1430 | |||
| 26 | M | 57 | Sch/Multiple myeloma | n.d. | n.d. | 1149 |
n.d.: not determined, Gender: F, female; M, Male.
AD, Alzheimer’s disease; CBD, corticobasal degeneration; FTD, frontotemporal dementia; HS, hippocampal sclerosis; LBD, Lewy body disease; PAX, apraxia;
PiD, Pick’s disease; PNFA, progressive non-fluent aphasia; Prog Anomia, progressive anomia; Sch, schizophrenia.