Table 1.
Clinical and molecular characterisation of the eight Parkinson’s disease (PD) patients with identified PARK2 deletions and duplications
| ID | Age of onset | Age at analysis | PARK2 mutations | Genotype (cDNA )a | Main clinical symptoms | PD type | |
|---|---|---|---|---|---|---|---|
| Mutation1 | Mutation2 | ||||||
| 1 | 32 | 39 | Ex3del |
c.1337G > T p.Cys446Phe |
c.[172-?_412 + ?del];[1337G > T] | Rigidity, depression and anxiety | EOPD |
| 2 | 31 | 40 | Ex4_7del |
c.101_102del p.Gln34Argfs*5 |
c.[413-?_871 + ?del(;)101_102del)] | Rest tremor | EOPD |
| 3 | 26 | 29 | Ex3del | Ex4_7del | c.[172-?_412 + ?del];[ 413-?_871 + ?del] | Bradykinesia, depression and anxiety | EOPD |
| 4 | 24 | 33 | Ex3_4del |
c.101_102del p.Gln34Argfs*5 |
c.[174-?_534 + ?del];[101_102del] | Dominating lower limbs dystonia | EOPD |
| 5 | 60 | 75 | Ex6_7del | – | c.[619-?_871 + ?del];[=] | Rest tremor, late fluctuation and dyskinesia | LOPD |
| 6 | 33 | 42 | Ex2_5dup |
c.734A > T p.Lys211Asn |
c.[8-?_618 + ?dup];[c.734A > T] | Rest tremor, early fluctuation and dyskinesia, depression, early postural instability | EOPD |
| 7 | 36 | 61 | Ex2dup | – | c.[8-?_171 + ?dup];[=] | Rigidity, early fluctuation and dyskinesia | EOPD |
| 8 | 54 | 49 | Ex2dup | – | c.[8-?_171 + ?dup];[=] | Rest tremor, early fluctuation and dyskinesia, excellent response for levodopa treatment | LOPD |
aHGVS v2 nomenclature, den Dunnen and Antonarakis (2000); reference sequence NM_004562.2 (NCBI37/hg19)