Table 1.
LRRK2‐PD pathology reported by human brain autopsies in separate studies.
| Report | Autopsies (n) | Variants (n) | LB pathology (n+/n) | Tau pathology (n+/n) | Other inclusions (n+/n) |
|---|---|---|---|---|---|
| [10] | 3 | p.G2019S | 3/3 | 1/3 | – |
| 139, 140, 141 | 33 | p.G2019S | 2/3 | 3/3 | – |
| 142 | 1 | p.G2019S | 0/1 | 1/1 | PSP‐like (1/1) |
| 143 | 8 | p.G2019S | 8/8 | 6/8 | – |
| 144 | 3 | p.G2019S | 2/3 | 3 /3 | – |
| 145 | 4 | p.G2019S | 4/4 | 4/4 | Olfactory bulb LBs (4/4) |
| 146 | 3 | p.G2019S | 3/3 | 3/3 | – |
| [39] | 4 |
p.G2019S (3) p.R1441G (1) |
2/4 (2/3 p.G2019S, 0/1 p.R1441G) | 3/4 (3/3 p.G2019S, 0/1 p.R1441G) | – |
| 147 | 1 | p.G2019S | 1/1 | 1/1 | – |
| 42,8,148 | 6 | p.R1441C (4), p.Y1699C (2) | 2/6 (2/4, p.R1441C, 0/2 p.Y1699C) | 2/6 (1/4 p.R1441C, 1/2 p.Y1699C) | PSP‐like (1/6, R1441C); TDP‐43 (1/6, R1441C) |
| [53] | 1 | p.Y1699C | 1/1 | 1/1 | Olfactory bulb LBs |
| 149 | 1 | p.I1371V | 1/1 | 1/1 | – |
| 150 | 2 | p.R793M (1), p.L1165P (1) | 2/2 | 2 /2 | TDP‐43 in TC (2/2) |
| 139 | 1 | p.R1441R | 1/1 | n.d. | – |
| 151, 152 | 8 | p.I2020T | 1/8 | 0/8 | Glial cytoplasmic inclusions (1/8) |
| 153 | 1 | p.R1441G | 0/1 | 1/1 | Aß in SN |
| 154 | 1 | p.N1437H | 1/1 | 1/1 | Ubiquitin inclusions |
| 155 | 3 | p.R1441H | 0/3 | 0/3 | – |
| [40] | 11 | p.G2019S (9), p.L1165P (1), p.R793M (1) | 7/11 (5/9 p.G2019S, 1/1 p.L1165P, 1/1 p.R793M) | 11/11 | – |
| 156 | 4 | p.G2019S | 2/4 | 4/4 | Ubiquitin inclusions (1/4) |
| TOTAL | 69 | – | 43/69 (62%) | 48/68 (71%) | – |
| TOTAL – p.G2019S | 42 | – | 32/42 (76%) | 38/42 (90%) | – |
| TOTAL – other LRRK2 variants | 27 | – | 11/27 (41%) | 10/26 (38%) | – |
Aß, amyloid beta; LBs, Lewy bodies; n, number of subjects; n+, number of subjects with the pathology; PSP, progressive supranuclear palsy; SN, substantia nigra; TC, temporal cortex; TDP‐43, TAR DNA‐binding protein 43.