Table 1.
GBA1 mutations for heterozygote family members
| GBA1 mutation | Number | Number with parkinsonism |
Mutation severitya |
|---|---|---|---|
| N370S | 99 | 3 | Mild |
| L444P | 49 | 7 | Severe |
| E326K + N188S | 6 | 2 | Severeb |
| IVS4-2a>g +c.(−203)A>G | 5 | Null | |
| G202R | 5 | 1 | Severe |
| G195W | 5 | Severe | |
| G377S | 3 | Mild/severe | |
| R463C | 3 | Severe | |
| R257Q | 3 | 1 | Severe |
| T134P | 2 | Unknown | |
| R120W | 2 | Severe | |
| R257X | 2 | Null | |
| S364R | 2 | Severe | |
| V398I | 2 | 1 | Mildc |
| c.l249_1251delTGC | 2 | 1 | Unknownd |
| c.953delT | 2 | 1 | Null |
| deb55 | 2 | Null | |
| W(−4)X | 1 | Null | |
| D409H | 1 | Severe | |
| c.l098insA | 1 | Null | |
| P182L | 1 | Severe | |
| P391L | 1 | Unknown | |
| R163X | 1 | Null | |
| R47X | 1 | Null | |
| Y313H | 1 | Unknown | |
| c.l207insA | 1 | Frameshift | |
| c.l439_1445del7 | 1 | 1 | Frameshift |
| c.500insT | 1 | Null | |
| c.708delC | 1 | Frameshift | |
| c.84insG | 1 | Null | |
| Total | 207 | 18 |
a
All designations of mutation severity are according to Beutler et al 2005 unless otherwise indicated
b
The two brothers in the SGDR with L444P/E326K + N188S have neuronopathic phenotypes (type 2 and type 3)
c
Two V398I homozygotes were reported with a GD1 phenotype (Rozenberg et al 2006)
d
The two GD1 subjects in the SGDR with N370S/c.1249_1251delTGC have mild type 1 phenotype and do not require treatment