Table 1.
Description of abnormal genetic findings in a cohort of 94 patients with PD who underwent deep brain stimulation surgery
| Genetic test results | No. of patients (sex) | Description | Mean age ± SD/age at symptom onset, y | Family historya |
|---|---|---|---|---|
| Parkin double mutation carriers | 24 ± 11.1 | |||
| 4 (3 M, 1 F) | Homozygous [c.101_102delAG] | 30 | Nil | |
| c.1289G>A, p.G430D and c.823C>T; p.Arg275Trp | 20 | Sibling | ||
| c.337_376del and c.465–466del | 36 | Nil | ||
| Homozygous deletion of exon 3 and 4 | 27 | Sibling | ||
| c.823C>T; p.Arg275Trp and Heterozygous duplication of exon 6 | 7 | Unknown | ||
| Parkin single mutation carriers | ||||
| 5 (4M, 1F) | c.1000C>T; p.Arg334Cys | 41 | Nil | |
| c.337_376del, p.P113TfsX51 | 39 | Nil | ||
| c.1310C>T; p.P437L and GBA T369Mb | 39 | Nil | ||
| GBA confirmed mutation | 42.9 ± 6.2 | |||
| 16 (9 M, 7 F) | R463C/R463C | 45 | Parent | |
| L444P/E326K | 34 | Nil | ||
| N370S | 45 | 2 Second-degree relatives | ||
| D409H | 39 | Nil | ||
| recNcil | 40 | Nil | ||
| R463C | 45 | Parent | ||
| N188S | 49 | Nil | ||
| R275Q | 42 | Parent | ||
| IVS2 + 1 G>A | 41 | Nil | ||
| L444P | 45 | Nil | ||
| E326K/E326K | 42 | 1 Third-degree relative | ||
| E326K | 36 | 1 Second-degree relative | ||
| E326K | 51 | Parent | ||
| E326K | 58 | Nil | ||
| E326K and LRRK2 G2019Sb | 35 | Nil | ||
| T369M and parkin c.1310C>T; p.P437Lb | 39 | Nil | ||
| LRRK2 | 43 ± 8.7 | |||
| 5 (3 M, 2 F) | G2019S | 40 | Nil | |
| G2019S | 36 | Parent | ||
| G2019S | 49 | Nil | ||
| G2019S | 55 | Parent | ||
| G2019S and GBA-E326Kb | 35 | Nil | ||
| No mutation found | ||||
| 67 (46 M, 21 F) | 40.8 ± 7.2 | Parent, n = 9 | ||
| Sibling, n = 2 | ||||
| Grandparent, n = 2 | ||||
| Half sibling, n = 1 | ||||
| Cousin, n = 4 | ||||
| Aunt, n = 2 |
a
Family history data details the number of patients reporting a positive family history of PD, together with affected relative in each genetic subgroup.
b
Note that the numbers add up to 96, because 2 individuals who carried 2 confirmed PD mutations are represented twice in the table.
SD, standard deviation; M, males; F, females; GBA, glucosidase beta acid; LRRK2, leucine-rich repeat kinase 2.