Table 2.
Summary of SNCA autopsy reports (adjusted and updated from Poulopoulos et al.5)
| Report | Autopsies (n) | Genotype (n) | Phenotype (n) | Pattern of Neuronal Loss | LB, LN Pathology (n) | LB Distribution— Braak Stage (n) | Tau Pathology— NFT Stage29, 30 (n) | Other Inclusions |
|---|---|---|---|---|---|---|---|---|
| Golbe et al., 1990136; Duda et al., 2002137 | 2 | A53T (2) | EOPD dementia (2) | SN, LC | 2 | 5 to 6 (1) incomplete data (1) | I (1) incomplete data (1) | — |
| Spira et al., 2001138 | 2 | A53T (2) | EOPD, cognitive decline (2) | SN, LC, hippocampus | 2 | 5 to 6 (2) | — (2) | — |
| Zarranz et al., 20048 | 1 | E46K (1) | PD dementia (1) | SN>LC | 1 | 6 (1) | — (1) | — |
| Markopoulou et al., 200816 | 2 | A53T (2) | EOPD (1) PD (1) dementia (2) | SN, LC, hippocampus | 2 | 5 (1) 6 (1) | I (1) IV (1) | TDP-43 in TC,GCI (2) |
| Seidel et al., 2010139 | 1 | A30P (1) | PD dementia (1) | SN, LC, dnV | 1 | 6 (1) | II (1) | GCI |
| Pasanen et al., 201418 | 1 | A53T (1) | EOPD | SN, LC, Put, caudate, hippocampus CA2–3, amygdala, TC, insular cortex | n.d. | n.d. | n.d. | TDP-43 positive but mostly SNCA negative perinuclear inclusions in hippocampus dentate fascia |
| Kiely et al., 2015140 | 2 | G51D (3) H50Q (1) | Pallodopyramidal syndrome; PD dementia; late-onset iPD; FTD | Cortical, hippocampus, SN, LC, dnV | 6 | 6 | — | GCI, rarely coiled type II; or absent (1); TDP-43 pathology (2) |
| 1 | Duplication (1) | |||||||
| Wakabayashi et al., 1998141 | 2 | Duplication (2) | PD, dementia (2) | SN, LC, nbM | 2 | 5 to 6 (2) | II (2) | — |
| Obi et al., 2008142 | 1 | Duplication (1) | EOPD dementia (1) | SN, LC hippocampus | 1 | 5 to 6 (1) | I (1) | GCI |
| Ikeuchi et al., 200817 | 1 | Duplication (1) | EOPD dementia autonomic (1) | SN, LC, hippocampus | 1 | 5 to 6 (1) | III (1) | — |
| Kara et al., 2014143 | 1 | Duplication (1) | FTD with parkinsonism | DLB (diffuse neocortical) | LN, glial alpha-synuclein Inclusions | 6 | 1 | Glial alpha synuclein |
| Konno et al., 2016144 | 1 | Duplication (1) | MSA | SN, LC, dnV, nbM, amygdala, hippocampus, cortex | Neuronal loss, LN, glial alpha-synuclein Inclusions | Widespread, pattern of DLB (diffuse neocortical) | 0–1 | Glial alpha synuclein |
| Waters and Miller, 1994145 | 1 | Triplication (1) | EOPD dementia (1) | SN, LC, hippocampus | 1 | 6 (1) | Sparse (1) | — |
| Muenter et al., 1998146 | 4 | Triplication (4) | EOPD (4) dementia (3/4) | SN, LC, hippocampus | 4 | 5 to 6 (4) | — (4) | — |
| Gwinn-Hardy et al., 200015 | 1 | Triplication (1) | EOPD dementia | SN, LC, hippocampus, cortex | 1 | 6 (1) | — (1) | GCI |
| Farrer et al., 2004147 | 1 | Triplication (1) | EOPD dementia autonomic (1) | SN, LC, hippocampus | 1 | 6 (1) | n.d. | — |
Point mutations are listed in white cells, duplications in light grey cells and triplications in dark grey. Abbreviations: EOPD = early onset Parkinson’s disease; PD = Parkinson’s disease; FTD = frontotemporal dementia; MSA = multiple system atrophy; SN = substantia nigra; TC = temporal cortex; GCI = glial-cytoplasmic inclusions; dnV = dorsal nucleus of the vagus; LC = Locus coruleus; LB = Lewy body; LN = Lewy neurites; nbM = nucleus basalis of Meynert; Put = putamen, n.d. = no data