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. 2017 May 8;10(2):69–79. doi: 10.14802/jmd.16061

Table 1.

Overview of different SNCA mutations and clinical features

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.