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. Author manuscript; available in PMC: 2014 Oct 24.
Published in final edited form as: Mov Disord. 2012 Dec 5;28(2):232–236. doi: 10.1002/mds.25248

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.

a

Unknown phase.

Abbreviations: M, male; F, female; NA, data not available; ND, not done; wt, wild type.

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