Table 2 Characteristics and genetic substrate of carriers (patients and controls) with heterozygous dominant or homozygous recessive variants
From: The genetic architecture of Parkinson’s disease on the Island of Crete
ID | Group | Age at onset (y) | Sex | Age at enrollment (y) | Ethnicity | Pathogenic/Likely pathogenic | VUS |
|---|---|---|---|---|---|---|---|
#P001 | sLOPD | 60.6 | Male | 63.3 | Greek | NA | GBA1:p.T408M |
#P006 | sLOPD | 64.1 | Male | 66.8 | Greek | GBA1:p.N409S; ATP13A2:p.T517I; PLA2G6:p.D739H | NA |
#P008 | sLOPD | 63.6 | Male | 71.1 | Greek | NA | GCH1:p.E2G |
#P011 | fPD | 41.4 | Female | 72.6 | Greek | LRRK2:p.G2019S | NA |
#P014 | fPD | 68.0 | Female | 75.3 | Greek | PRKN:p.R275W | GCH1:p.E2G |
#P038 | sEOPD | 38.7 | Male | 46.2 | Greek | GBA1:p.L483P | NA |
#P039 | fPD | 71.4 | Female | 79.8 | Greek | NA | GBA1:p.T408M; GCH1:p.Q48K |
#P041 | sLOPD | 60.4 | Male | 66.0 | Greek | NA | SORL1:p.G1379D |
#P059 | sLOPD | 55.2 | Female | 57.9 | Greek | NA | GCH1:p.Q48K |
#P063 | sLOPD | 71.6 | Male | 84.3 | Greek | NA | DNAJC13:p.E843G |
#P064 | sLOPD | 60.5 | Male | 71.5 | Greek | NA | LRRK2:p.L119P |
#P072 | sLOPD | 62.6 | Female | 55.1 | Greek | GBA1:p.L483P | NA |
#P074 | sLOPD | 84.5 | Male | 86.8 | Greek | NA | GIGYF2:p.S335T; PLA2G6:p.D183N |
#P078 | sLOPD | 59.9 | Male | 54.2 | Greek | GBA1:p.L483P | NA |
#P081 | sEOPD | 44.5 | Female | 54.0 | Greek | FIG4:p.I41Ta | POLG:p.A219S |
#P084 | sLOPD | 54.8 | Male | 59.4 | Greek | GBA1:p.L483P | NA |
#P092 | fPD | 58.5 | Male | 70.6 | Greek | NA | GBA1:p.T408M; PLA2G6:p.S258L |
#P093 | sLOPD | 54.3 | Female | 54.7 | Greek | GBA1:p.L483P | NA |
#P100 | fPD | 44.8 | Male | 60.4 | Greek | NA | GCH1:p.Q48K |
#P104 | sEOPD | 41.9 | Female | 42.6 | Greek | GBA1:p.L483P; GCH1:p.T94M | NA |
#P105 | sLOPD | 67.2 | Female | 68.9 | Greek | NA | SORL1:p.V1616L |
#P114 | sLOPD | 58.7 | Female | 63.7 | Greek | NA | GBA1:p.E365K |
#P132 | sEOPD | 49.1 | Female | 55.5 | Greek | NA | GBA1:p.E365K |
#P135 | fPD | 43.0 | Male | 45.3 | Greek | NA | GBA1:p.T408M; POLG:p.V1044A |
#P137 | sLOPD | 67.3 | Female | 81.3 | Greek | GBA1:p.L483P | NA |
#P145 | sEOPD | 50.4 | Female | 50.4 | Greek | NA | GBA1:p.E365K |
#P161 | sLOPD | 53.6 | Male | 74.5 | Greek | NA | GCH1:p.E2G |
#P165 | sLOPD | 61.9 | Female | 70.8 | Greek | NA | GCH1:p.Q48K |
#P171 | sLOPD | 62.2 | Male | 73.1 | Greek | NA | LRP10:p.R151H |
#P177 | fPD | 51.5 | Female | 57.0 | Greek | NA | GBA1:p.T408M |
#P188 | sLOPD | 54.9 | Female | 56.2 | non-Greek | NA | GBA1:p.E365K |
#P195 | fPD | 51.7 | Female | 57.8 | Greek | NA | GBA1:p.T408M |
#P196 | sLOPD | 59.6 | Female | 61.6 | Greek | SNCA:p.A53T | NA |
#P208 | sLOPD | 51.0 | Female | 54.0 | Greek | NA | GBA1:p.R502H |
#P211 | fPD | 62.7 | Female | 76.0 | Greek | GBA1:p.N409S | NA |
#P212 | sLOPD | 64.3 | Male | 72.2 | Greek | PNPLA6:p.R1311W; GCH1:p.T94Ma | GCH1:p.Q48K |
#P217 | sLOPD | 64.3 | Male | 79.0 | Greek | NA | GCH1:p.E2G; PARK7:p.A107T |
#P219 | sLOPD | 52.6 | Male | 52.6 | Greek | NA | GBA1:p.T408M; PINK1:p.R152W |
#P221 | fPD | 34.2 | Male | 43.0 | Greek | PINK1:p.Y295Tera | NA |
#P224 | sLOPD | 63.0 | Male | 63.0 | non-Greek | NA | CHCHD2:p.G4R; PINK1:p.G32R |
#P229 | sEOPD | 38.4 | Male | 44.6 | non-Greek | NA | GBA1:p.E365K |
#P230 | fPD | 54.1 | Male | 54.3 | Greek | GBA1:p.L483P; ATP13A2:p.T517I | ATP13A2:p.R545C |
#P240 | sLOPD | 72.9 | Female | 72.9 | Greek | NA | GCH1:p.E2G |
#P245 | fPD | 62.7 | Male | 62.7 | Greek | LRRK2:p.G2019S; POLG:p.P587L | NA |
#P261 | sLOPD | 69.7 | Female | 72.1 | Greek | NA | GBA1:p.T408M |
#P263 | fPD | 60.1 | Male | 63.5 | Greek | GBA1:p.L483P | NA |
#P265 | sLOPD | 55.6 | Male | 70.3 | non-Greek | NA | DNAJC13:p.E1659A |
#P274 | fPD | 50.6 | Female | 50.6 | non-Greek | GBA1:p.D448H; GBA1:p.H294Q | NA |
#P278 | sLOPD | 65.1 | Female | 71.9 | Greek | GCH1:p.C18Ter; GCH1:p.T94M | NA |
#P288 | sEOPD | 47.6 | Male | 63.4 | Greek | NA | DNAJC6:p.H606P; GBA1:p.K237T |
#P297 | sEOPD | 48.2 | Male | 57.0 | non-Greek | NA | LRP10:p.Y307N; PRKN:p.M192V |
#P301 | fPD | 58.0 | Male | 82.2 | Greek | NA | GCH1:p.Q48K |
#P304 | sEOPD | 48.0 | Female | 48.0 | Greek | GCH1:p.M1? | SPG7:p.A10S |
#P323 | sLOPD | 80.8 | Male | 80.8 | Greek | ATP13A2:p.T517I; LRRK2:p.G2019S | NA |
#P336 | fPD | 70.0 | Male | 73.8 | Greek | GCH1:p.M1?; PNPLA6:p.W911Ter; GCH1:p.T94M | NA |
#P343 | fPD | 39.0 | Male | 47.0 | Greek | NA | LRRK2:p.L119P; SPG7:p.A10T |
#P345 | fPD | 40.6 | Female | 40.6 | Greek | PRKN:p.R42P | GCH1:p.Q48K |
#P347 | sLOPD | 63.8 | Male | 64.0 | Greek | NA | GBA1:p.T408M; GIGYF2:p.S335T |
#P350 | sEOPD | 35.0 | Female | 35.0 | Greek | NA | GCH1:p.Q48K |
#P360 | sEOPD | 50.0 | Male | 50.0 | Greek | NA | GBA1:p.T408M |
#P367 | sEOPD | 45.5 | Male | 71.5 | Greek | NA | GBA1:p.E365K |
#P369 | fPD | 60.0 | Male | 60.0 | Greek | GBA1:p.L483P; PINK1:p.F385L | POLG:p.R1034K |
#P372 | fPD | 62.0 | Male | 62.0 | Greek | LRRK2:p.R1441H | NA |
#P374 | fPD | 57.0 | Male | 67.0 | Greek | GBA1:p.H294Q | NA |
#P375 | fPD | 60.0 | Female | 60.0 | Greek | NA | GBA1:p.C55S |
#P393 | sLOPD | 68.0 | Female | 61.0 | Greek | GBA1:p.L483P | NA |
#P394 | sLOPD | 63.9 | Male | 65.4 | Greek | NA | GBA1:p.E365K |
#P397 | sEOPD | 47.2 | Male | 55.5 | Greek | NA | GBA1:p.E365K |
#P407 | fPD | 54.0 | Female | 55.7 | Greek | NA | GBA1:p.T408Ma |
#P408 | sLOPD | 70.8 | Female | 74.2 | Greek | NA | VPS35:p.A737V |
#C053 | Control | NA | Male | 65.0 | Greek | NA | LRRK2:p.L119P |
#C080 | Control | NA | Male | 63.0 | Greek | NA | VPS35:p.A737V |
#C081 | Control | NA | Male | 65.0 | Greek | NA | ATXN2:p.P794S |
#C093 | Control | NA | Male | 71.7 | Greek | NA | LRRK2:p.L119P |
#C099 | Control | NA | Male | 64.0 | Greek | NA | ATXN2:p.P794S |
#C104 | Control | NA | Male | 70.0 | Greek | NA | POLG:p.V1044Aa |
#C115 | Control | NA | Female | 74.4 | Greek | NA | GBA1:p.T408M |
#C127 | Control | NA | Male | 79.7 | Greek | NA | LRRK2:p.L119P |
#C128 | Control | NA | Male | 68.8 | Greek | NA | GBA1:p.T408M |
#C151 | Control | NA | Female | 61.4 | Greek | NA | LRP10:p.R151H |
#C169 | Control | NA | Male | 60.7 | Greek | NA | GBA1:p.E365K |
#C174 | Control | NA | Male | 62.0 | Greek | NA | GBA1:p.E365K |
#C214 | Control | NA | Male | 76.0 | Greek | NA | LRRK2:p.L119P |
#C258 | Control | NA | Male | 62.0 | Greek | NA | LRRK2:p.T2356I |
#C263 | Control | NA | Male | 75.0 | Greek | NA | LRRK2:p.R493C |
#C270 | Control | NA | Female | 73.8 | Greek | NA | LRRK2:p.L119P |
#C310 | Control | NA | Male | 67.0 | Greek | NA | ATXN2:p.P794S |
