Table 2.
Neuropathology of α-synuclein mutation cases where α-synuclein immunohistochemistry data are available
| Mutation | Number of cases (n) | Neuronal loss | α-Synuclein pathology | Tau Braak and Braak stage | TDP-43 pathology | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SN | LC | CA1 | CA2/3 | Pattern | Striatum | Neocortical distribution | Glial inclusions | |||||
| Golbe et al. [26] and Duda et al. [19] | A53T | 2 | Severe | Mild–moderate | Yes | No | PD-like | Moderate grains and threads | Deep laminae | Not described | I | Not described |
| Spira et al. [77] | A53T | 2 | Severe | Severe | No | Severe | PD-like | None | Deep laminae | None | 0 | Not described |
| Markopoulou et al. [48] | A53T | 2 | Severe | Mild | Severe (n = 1) | CA2 (n = 1) | PD-like | Grains and threads (n = 1) | Deep laminae | Small numbers GCIs | IV (n = 1), I (n = 1) | Limbic and cortical (n = 1, with CA1 neuronal loss) |
| Seidel et al. [72] | A30P | 1 | Severe | Not described | Not described | Not described | PD-like | LBs | Deep laminae | Small numbers CB and astrocytes of PD type | II | Not described |
| Zarranz et al. [84] | E46 K | 1 | Moderate–severe | Mild | Not described | Not described | PD-like | None | Present, distribution not described | Not described | 0 | Not described |
| Obi et al. [57] | Duplication | 1 | Severe | Severe | None | Moderate | Features of PD and MSA | None | Present, distribution not described | Small numbers GCIs and CB | I | Not described |
| Ikeuchi et al. [32] | Duplication | 1 | Severe | Not described | None | Severe | PD-like | Not described | Present, distribution not described | Few, type not specified | III | Not described |
| Gwinn-Hardy et al. [27] | Triplication | 1 | Severe | Severe | None | Severe | Features of PD and MSA | LBs and neurites | Predominantly deep laminae | Small numbers GCIs and CB | 0 | Not described |
| Farrer et al. [21] | Triplication | 1 | Severe | Severe | None | Severe | PD-likea | Not described | Present, distribution not described | Not described | Not described | Not described |
| This report | G51D | 1 | Severe | Severe | Mild | Severe | Features of PD and MSA | Frequent neuronal inclusions and threads | Superficial and deep laminae | GCIs and CB | II | Limbic |
SN substantia nigra, LC locus coeruleus, N/A not available, PD Parkinson’s disease, CB coiled bodies
aDetailed description of α-synuclein pathology not provided