Table 1.
Variable |
SNCA mutation |
||||||
---|---|---|---|---|---|---|---|
p.A53T | p.A30P | p.E46K | G51D | H50Q | Duplication | Triplication | |
References | 17, 28–34 | 34, 35 | 22 | 36, 37 | 23, 36, 38 | 39–42 | 25, 43, 44 |
Mean age of onset | 47 yr | 60 yr | 60 yr | 40 yr | 58 yr | 50 yr | 40 yr |
Mean time from motor onset to death | 8 yr | 4 yr in 1 individual, others alive | 10 yr | 8 yr | 8 yr | 15 yr | 7 yr |
Motor features* | |||||||
Tremor | ↓* | ↓ | ↑ | ↓ | - | - | ↑ |
Rigidity | -* | ↓ | ↑ | - | - | - | ↑ |
Bradykinesia | - | ↓ | ↑ | - | - | - | ↑ |
Postural instability | - | ↓ | ↑ | - | - | - | ↑ |
Non-motor features* | |||||||
Dementia | ↑* | - | ↑ | ↑ | ↑ | - | ↑ |
Depression | ↑ | - | - | ↑ | - | - | - |
Autonomic disturbances | ↑ | - | - | ↑ | - | - | - |
Sensitivity to levodopa therapy | +* | ? | With hallucinations and fluctuation of consciousness at therapeutic doses of L-dopa | +, induce involuntary movement | + | + | - |
This table was assembled using updated genetic insights of different SNCA mutations according to the reference by Kasten and Klein. [21]
different SNCA mutations’ motor/non-motor features compared with typical Parkinson’s disease symptoms. ↓: means moderate, -: means no difference/not sensitive, ↑: means severe, +: means sensitive, ?: means unknown.