Table 1

GBA variants found in the 1893 recently diagnosed patients from the Tracking Parkinson’s study

Cases,
n (%)
Recognised GD pathogenic mutationsPD-associated non-GD variantsRare variants of unknown significance
30 (1.6%)p.L444P
11 (0.6%)p.N370S
5 (0.3%)p.R463C
2 (0.1%)p.G202R
2 (0.1%)p.R359S
86 (4.5%)p.E326K
35 (1.8%)p.T369M
26* (1.4%)p.D409H, p.F213I,p.G189V,
p.G377S,p.K157Q,
p.L383Xfs,
p.L66P,p.M123T,
p.N382Xfs, p.R163s,
p.R257Q,p.S173s,
p.E481Xfs, p.G10S,
p.G325W,p.R170H,
p.T323I,p.L175I,
p.L324V,p.P55S,
p.R262H,p.R329H
p.R395C,p.T267I,
p.L268L, Asp315His,
Exon 3 hemizygous deletion
7† (0.4%)p.A456P, p.V460V
6‡(0.3%)p.D140H, p.I308T,
Ex4 hemizygous deletion
  • *Each of the 27 variants was found in single cases from our cohort, although one individual had two of these variants (total n=26).

  • †Each variant was found in six cases from our cohort, although some individuals had more than one of these variants (total n=7).

  • ‡Each variant was found in two cases from our cohort (total n=6).

  • GD,  Gaucher’s disease; PD, Parkinson’s disease.