Table 1.
Summary of SNCA autopsy reports
| 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, 199015 Duda, 200216 |
2 | A53T (2) | EOPD Dementia (2) | SN, LC | + (2) | 5–6 (1) Incomplete data (1) |
I (1) Incomplete data (1) | - |
| Spira, 200117 | 2 | A53T (2) | EOPD, cognitive decline (2) | SN, LC, Hippocampus | + (2) | 5–6 (2) | − (2) | - |
| Markopoulou, 200818 | 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, 201019 | 1 | A30P (1) | PD Dementia(1) | SN, LC, dnV | + (1) | 6 (1) | II (1) | GCI |
| Zarranz, 20049 | 1 | E46K (1) | PD Dementia(1) | SN>LC | + (1) | 6 (1) | − (1) | - |
| Waters, 199420 | 1 | Triplication (1) | EOPD Dementia(1) | SN, LC, Hippocampus | + (1) | 6 (1) | Sparse (1) | - |
| Muenter, 199821 | 4 | Triplication (4) | EOPD (4) Dementia (3/4) | SN, LC, Hippocampus | + (4) | 5–6 (4) | − (4) | - |
| Gwinn-Hardy, 200022 | 1 | Triplication (1) | EOPD Dementia | SN, LC, Hippo, cortex | + (1) | 6 (1) | − (1) | GCI |
| Farrer, 200426 | 1 | Triplication (1) | EOPD Dementia Autonomic(1) | SN, LC, Hippocampus | + (1) | 6 (1) | No data | - |
| Wakabayashi, 199823 | 2 | Duplication (2) | PD, Dementia (2) | SN, LC, nbM | + (2) | 5–6 (2) | II (2) | - |
| Obi, 200824 | 1 | Duplication (1) | EOPD Dementia(1) | SN, LC Hippo | + (1) | 5–6 (1) | I (1) | GCI |
| Ikeuchi, 200825 | 1 | Duplication (1) | EOPD Dementia Autonomic(1) | SN, LC, Hippocampus | + (1) | 5–6 (1) | III (1) | - |
Abbreviations: LB: Lewy body, LN: Lewy neurite, NFT: Neurofibrillary tangle, EOPD, early-onset PD, SN: substantia nigra, LC: locus coeruleus, TC: temporal cortex, GCI: glial-cytoplasmic inclusions, TDP-43: TAR DNA binding protein-43. dnV: dorsal nucleus of the vagus. nbM: nucleus basalis of Meynert