Table 1 Frequency of GBA mutations in various populations of PD patients

N370S, L444P, T369M, IVS6, IVS10,

K303K, R262H, E326K, RecNci1

Mixed

1325

359

12.6%

5.3%

–

E326K, L444P, N370S, T369M

[55]

N370S, c.84dupG, R496H, L444P, V394L,

IVS2 + 1, RecTL, D409H

Ashkenazi

420

333

17.9%

4.2%

≤0.0001

N370S

[57]

N370S, IVS2 + A > G, K198T, L444P,

R329C, RecNci1, c.84dupG

Canadian

88

122

5.7%

0.8%

0.48%

RecNci1

[67]

L444P, N370S

Chinese population in Singapore

331

347

2.4%

0.0%

0.06

L444P

[68]

L444P, N370S

Italian

395

483

2.8%

0.2%

0.0018

L444P

[69]

L444P, N370S, c.84dupG,

V394L, IVS2 + A > G, R496H

Ashkenazi

99

1543

31.3%

6.2%

≤0.0001

N370S

[70]

L444P, N370S

Russian

330

240

2.7%

0.4%

0.038

N370S

[71]

GBA exons

Japanese

534

544

9.4%

0.1%

≤0.0001

R120W, RecNci1

[72]

GBA exons

Korean

277

291

3.2%

0.0%

0.01

N188S, R257Q, P201H, L444P, S271G

[73]

GBA exons

Portugese

230

430

6.1%

0.7%

–

N370S, N396T

[74]

L444P, R353W, F213I, N370S

PD patients in China's mainland

402

413

2.7%

0.0%

0.0007

L444P

[75]

N370S, G377S, L444P

Brazilian

65

267

3.0%

0.0%

0.037

L444P

[76]

L444P, R120W, RecNci1

PD patients in Taiwan region

518

339

3.1%

1.2%

0.07

L444P, RecNci1

[77]

GBA exons

Greek

172

132

4.7%

0.8%

0.048

H255Q, L444P

[78]

N370S, 84GG, L444P, IVS2 + 1G > A,

V394L, D409H, del55bp, R496H

Ashkenazi

250

–

12.8%

–

–

N370S

[79]

LRRK2 (G2019S), GBA exons

North African (Morocco, Algeria, Libya, Tunisia)

194

177

4.6%

0.5%

0.01

N370S, L444P, RecNci1

[57]