Table 1:
Demographic, clinical, and genotypic characteristics of study participants
| GROUP | Family | Sex | PD Status | Age | AAO | Disease Duration | Genotype | Coloc. Index |
|---|---|---|---|---|---|---|---|---|
| DJ1 | DJ1 | M | A | 35 | 20 | 15 | DJ1, p.A35Cfs*12; DJ1, delE3 | 1.998 |
| GBA | F | A | 51 | 47 | 4 | GBA, p.N409S | 2.059 | |
| GBA | M | A | 68 | 42 | 26 | GBA, p.N409S | 2.361 | |
| GBA | F | A | 66 | 52 | 14 | GBA, p.N409S | 2.952 | |
| GBA | F | A | 41 | 35 | 6 | GBA, p.L483P | 1.831 | |
| GBA | F | A | 36 | 32 | 4 | GBA, p.L483P | 0.536 | |
| GBA | F | A | 83 | 61 | 22 | GBA, p.N409S | 1.578 | |
| PRKN | PRKN 1 | F | A | 50 | 35 | 15 | PRKN p.V56E; PRKN delE7 | 1.061 |
| PRKN | PRKN 1 | F | A | 39 | 32 | 7 | PRKN p.V56E; PRKN delE7 | 0.830 |
| PRKN | M | A | 67 | 19 | 48 | PRKN, p.R275W; PRKN, delE3–4 | 1.083 | |
| PRKN | M | A | 72 | 37 | 35 | PRKN, p.R275W; PRKN, delE3–4 | 1.296 | |
| PRKN | PRKN 2 | F | A | 47 | 27 | 20 | PRKN, c.7+5G>T; PRKN, delE3–4 | 1.262 |
| PRKN | M | A | 58 | 37 | 21 | PRKN, E3; PRKN, E3–4 | 1.140 | |
| PRKN | F | A | 67 | 30 | 37 | PRKN, p.Asn52fs; PRKN , p.Asn52fs | 1.117 | |
| PRKN Het | M | A | 55 | 37 | 18 | PRKN, delE2 | 1.207 | |
| PRKN Het | M | A | 45 | 35 | 10 | PRKN, p.Gln34Argfs | 1.545 | |
| LRRK2 | F | A | 45 | 45 | 0 | LRRK2, p.G2019S; LRRK2, p.R1441G | 2.848 | |
| LRRK2 | M | A | 48 | 47 | 1 | LRRK2, p.G2019S | 2.471 | |
| LRRK2 | M | A | 66 | 46 | 20 | LRRK2, p.G2019S | 2.105 | |
| LRRK2 | M | A | 70 | 55 | 15 | LRRK2, p.G2019S | 2.708 | |
| LRRK2 | LRRK2 | M | A | 76 | 61 | 15 | LRRK2, p.G2019S | 1.994 |
| LRRK2, GBA | F | A | 68 | 58 | 10 | LRRK2, p.G2019S; GBA, p.N409S | 2.075 | |
| LRRK2, GBA | LRRK2 | M | A | 73 | 66 | 7 | LRRK2, p.G2019S; LRRK2, p.G2019S; GBA, p.N409S | 1.802 |
| SNCA | M | A | 42 | 37 | 5 | SNCA, p.A53T | 2.790 | |
| SNCA | F | A | 52 | 49 | 3 | SNCA, Duplication | 2.499 | |
| EOPD | M | A | 40 | 32 | 8 | N/A | 1.058 | |
| EOPD | M | A | 46 | 41 | 5 | N/A | 3.238 | |
| EOPD | F | A | 40 | 36 | 4 | N/A | 2.151 | |
| EOPD | F | A | 44 | 41 | 3 | N/A | 1.659 | |
| EOPD | F | A | 62 | 56 | 6 | N/A | 1.880 | |
| LOPD | F | A | 75 | 73 | 2 | N/A | 3.536 | |
| LOPD | F | A | 61 | Missing | N/A | 2.062 | ||
| LOPD | M | A | 78 | 61 | 17 | N/A | 1.891 | |
| LOPD | M | A | 76 | 68 | 8 | N/A | 2.361 | |
| LOPD | F | A | 69 | 64 | 5 | N/A | 2.355 | |
| LOPD | M | A | 67 | 56 | 11 | N/A | 2.457 | |
| LOPD | M | A | 77 | 67 | 10 | N/A | 2.208 | |
| LOPD | F | A | 62 | 58 | 4 | N/A | 2.576 | |
| LOPD | M | A | 74 | 70 | 4 | N/A | 2.146 | |
| LOPD | F | A | 75 | 69 | 6 | N/A | 3.071 | |
| LOPD | F | A | 66 | 57 | 9 | N/A | 3.240 | |
| LOPD | F | A | 72 | 67 | 5 | N/A | 1.726 | |
| LOPD | F | A | 42 | 42 | 0 | N/A | 2.941 | |
| LOPD | M | A | 71 | Missing | N/A | 2.172 | ||
| Unaffcted SNCA* | M | U | 68 | N/A | SNCA, Duplication | 2.175 | ||
| GBA homo | M | U | 72 | N/A | GBA, p.N409S; GBA, p.N409S |
1.004 | ||
| Unaffected Parkin Het | PRKN 2 | F | U | 43 | N/A | PRKN, delE3–4 | 0.663 | |
| Unaffected DJ1 Carrier | DJ1 | F | U | 59 | N/A | DJ1, delE3 | 1.277 | |
| Unaffected DJ1 Carrier | DJ1 | M | U | 64 | N/A | DJ1, p.A35Cfs*12 | 0.184 | |
| HV | PRKN 1 | M | U | 35 | N/A | N/A | 0.259 | |
| HV | F | U | 59 | N/A | N/A | −1.000 | ||
| HV | F | U | 56 | N/A | N/A | −0.456 | ||
| HV | M | U | 65 | N/A | N/A | 1.279 | ||
| Unrelated Disease Group | F | U | 73 | N/A | N/A | 1.402 | ||
| Unrelated Disease Group | M | U | 63 | N/A | N/A | 1.305 | ||
| Unrelated Disease Group | M | U | 71 | N/A | N/A | 0.602 | ||
| Unrelated Disease Group | M | U | 72 | N/A | N/A | 0.477 | ||
| Unrelated Disease Group | F | U | 62 | N/A | N/A | −1.000 | ||
| Unrelated Disease Group | F | U | 31 | N/A | N/A | −1.000 | ||
| Unrelated Disease Group | M | U | 43 | N/A | N/A | 1.052 | ||
| Unrelated Disease Group | M | U | 49 | N/A | N/A | 0.827 | ||
| Unrelated Disease Group | M | U | 64 | N/A | N/A | −1.000 | ||
| Unrelated Disease Group | M | U | 63 | N/A | N/A | −1.000 | ||
| Unrelated Disease Group | M | U | 62 | N/A | N/A | −0.648 | ||
| Unrelated Disease Group | F | U | 46 | N/A | N/A | 1.571 |
Abbreviations: A=Affected PD; AAO=Age at onset; Coloc. Index = Colocalization Index; EOPD=early onset PD; F=female; Het= heterozygous; Homo=homozygous; HV=healthy volunteer; LOPD=late onset PD; M=Male; N/A=not applicable; PD=Parkinson disease; U=unaffected PD
*
Participant did not have symptoms at the time of the biopsy but subsequently developed mild cognitive impairment, which could reflect incipient dementia with Lewy bodies.