Table 2.
Genetic, demographic, and clinical information of patients with GBA variants
Patient | Gender | Genotype | Age at Onset | Familial History | Parkin | LRRK2 |
---|---|---|---|---|---|---|
1 | M | R463C/wt | 45 | Yes | – | – |
2 | M | N370S/wt | 46 | Yes | – | – |
3 | F | E326K, L444Pa | 34 | No | – | – |
4 | F | E326K/wt | 36 | NA | – | – |
5 | F | R257Q/wt | 42 | No | – | – |
6 | F | RecTL/wt | 44 | No | – | – |
7 | M | E388K/wt | 37 | NA | – | – |
8 | M | E326K/E326K | 42 | Yes | – | – |
9 | M | RecNcil/wt | 41 | No | – | – |
10 | F | D409H/wt | 40 | No | – | – |
11 | F | T369M, IVS10 −12 C>Ta | 39 | NA | p.P437L/wt | – |
12 | M | E326K/E326K | 38 | Yes | – | – |
13 | F | IVS2+1 G>A/wt | 42 | No | – | – |
14 | M | R463C/R463C | 45 | Yes | – | – |
15 | M | L217P/wt | 42 | No | – | – |
16 | F | N188S/wt | 49 | NA | – | – |
17 | M | IVS10 −4C>T/wt | 29 | No | Deletion of exons 4,5, and 6 | – |
18 | M | E326K/wt | 50 | Yes | – | – |
19 | M | L444P/wt | 49 | No | – | – |
20 | M | E326K/wt | 35 | No | – | p.G2019S/wt |
21 | M | N370S/wt | 48 | Yes | – | p.G2019S/wt |
22 | F | E326K/wt | 44 | No | – | – |
23 | F | E326K/wt | 49 | Yes | – | – |
24 | F | E326K/wt | 44 | No | – | – |
25 | F | G113A/wt | 37 | Yes | – | – |
26 | M | S465P/wt | 45 | No | – | – |
27 | M | E326K/wt | 42 | Yes | – | – |
28 | F | V375G/wt | 50 | No | – | – |
29 | M | R463C/wt | 42 | NA | – | – |
30 | F | RecNcil/wt | 31 | NA | p.P437L/wt | – |
31 | F | L354P/wt | 38 | NA | – | – |
32 | F | L317L/wt | 40 | NA | – | – |
33 | M | RecNcil/wt | 39 | NA | – | – |
34 | M | S177T, V172La | 38 | Yes | – | – |
35 | M | E326K/wt | 21 | NA | – | – |
37 | M | L(−14)V/wt | 30 | No | – | – |
38 | F | V172L/wt | 45 | Yes | – | – |
39 | M | N370S/N370S | 48 | No | – | – |
40 | F | H255Q, D409Ha | 38 | Yes | – | – |
41 | F | R131C/wt | 43 | No | – | – |
42 | M | W184R/wt | 36 | Yes | p.Pro113fs/p.Gly430Asp | – |
43 | M | E326K/wt | 40 | No | – | – |
44 | M | E326K/wt | 45 | No | – | – |
45 | M | N370S/wt | 35 | No | – | – |
46 | M | R131C/wt | 50 | NA | – | – |
47 | F | E326K/wt | 29 | No | – | – |
48 | M | N370S/wt | 27 | NA | c.535-9T>A | – |
Age at onset is expressed in years. Dashes represent negative. Patients 14 and 39 did not have GD symptoms.
Unknown phase.
Abbreviations: M, male; F, female; NA, data not available; ND, not done; wt, wild type.