TABLE 1.
Clinical group | Age (y) | CGG | XAR | FXTAS Stage | FXPOI | FSIQ | BDS2 | Anx |
C1* | 25 | 29,30 | ND | 0 | No | 115 | 18 | No |
C2* | 26 | 24,33 | ND | 0 | No | ND | ND | ND |
C3 | 27 | 40,42 | ND | 0 | No | 121 | ND | ND |
C4*¶ | 29 | 20,33 | ND | 0 | No | 106 | 26 | No |
C5* | 33 | 30,37 | ND | 0 | No | 121 | 26 | No |
C6* | 44 | 23,30 | ND | 0 | No | 104 | ND | No |
C7* | 45 | 22,33 | ND | 0 | No | ND | ND | No |
C8* | 47 | 23,30 | ND | 0 | No | ND | 24 | No |
C9 | 54 | 30 | ND | 0 | No | ND | ND | No |
C10*¶ | 60 | 23,30 | ND | 0 | No | 133 | 25 | Yes |
P1*¶ | 24 | 30,79 | 0.78 | 0 | No | 125 | 24 | No |
P2* | 24 | 31,93 | 0.38 | 0 | No | 96 | 19 | No |
P3* | 33 | 30,137 | 0.55 | 0 | No | 96 | 22 | Yes |
P4 | 33 | 29,81 | 0.57 | 0 | No | ND | ND | ND |
P5 | 37 | 30,79 | 0.72 | 0 | No | ND | ND | ND |
P6*(T) | 38 | 33,60 | 0.43 | 0 | No | 112 | 24 | No |
P7 | 38 | 43,78 | 0.15 | 0 | No | ND | ND | ND |
P8*(T) | 43 | 30,106 | 0.55 | 0 | No | 98 | 22 | No |
P9* | 49 | 31,86 | 0.64 | 0 | Yes | 118 | 25 | Yes |
P10* | 50 | 20,98 | 0.88 | 0 | No | 123 | 26 | No |
P11 | 50 | 30,94 | 0.56 | 0 | ND | ND | ND | ND |
P12 | 50 | 22,119 | 0.68 | 0 | No | 90 | 20 | Yes |
P13¶ | 52 | 29,81 | 0.68 | 0 | No | 105 | 23 | No |
P14¶ | 56 | 30,69 | 0.42 | 0 | Yes | 114 | 26 | Yes |
P15¶ | 57 | 30,68 | 0.40 | 0 | ND | ND | ND | ND |
P16 | 58 | 29,69 | 0.57 | 0 | No | ND | 23 | No |
P17 | 58 | 27,77 | 0.48 | 0 | No | 98 | 23 | Yes |
P18 | 60 | 30,84 | 0.90 | 0 | No | ND | ND | ND |
P19 | 60 | 23,87 | 0.86 | 0 | Yes | ND | ND | ND |
P20 | 62 | 30,84 | 0.15 | 0 | No | 100 | 26 | Yes |
P21 | 64 | 31,71 | 0.49 | 0 | No | ND | 23 | Yes |
P22 | 71 | 29,105,160 | 0.81 | 0 | Yes | 110 | 23 | Yes |
F1 | 54 | 31,102 | 0.68 | 2.5 | Yes | 104 | 25 | Yes |
F2 | 54 | 32,93 | 0.62 | 3 | ND | ND | ND | ND |
F3 | 56 | 30,93 | 0.15 | 3 | HYS | ND | 10 | Yes |
F4 | 57 | 30,99 | 0.76 | 2 | No | 96 | 21 | Yes |
F5 | 59 | 33,107 | 0.10 | ND | No | ND | ND | ND |
F6 | 60 | 37,70 | 0.62 | 3 | No | ND | ND | ND |
F7 | 60 | 31,100 | 0.53 | 3 | No | ND | ND | ND |
F8 | 62 | 37,107 | 0.57 | 2 | No | 131 | 25 | No |
F9 | 63 | 30,102 | 0.36 | 3 | HYS | 104 | 22 | Yes |
F10 | 64 | 30,82 | 0.60 | 4 | No | 92 | 23 | Yes |
F11 | 67 | 23,103 | 0.31 | 3 | No | 104 | 21 | Yes |
F12 | 68 | 23,88 | 0.92 | 3 | ND | ND | ND | ND |
F13 | 68 | 25,57 | 0.66 | 3 | Yes | 106 | 26 | No |
F14 | 68 | 30,74 | 0.68 | 3 | Yes | 115 | 21 | Yes |
F15 | 70 | 28,104 | 0.77 | 4 | Yes | 97 | 17 | No |
F16 | 70 | 20,85 | 0.52 | 2 | No | 103 | 19 | Yes |
F17 | 70 | 29,61 | 0.85 | 2 | ND | ND | ND | ND |
F18 | 70 | 30,110 | 0.42 | 3 | No | ND | ND | ND |
F19 | 70 | 29,105 | 0.64 | 2 | HYS | 105 | 17 | Yes |
F20 | 70 | 30,76 | 0.54 | 3 | Yes | 99 | ND | Yes |
* Metabolomics carried out in plasma. ¶ Proteomics carried out in PBMC. Anx, anxiety; BDS2, behavioral dyscontrol scale II; FSIQ, Full Scale IQ, calculated by Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) P and F indicate, respectively, PM carriers either without or with FXTAS; FXTAS stage refers to clinical evaluation determined by previous diagnosis and based on the score published in Jacquemont et al. (2003) and Hagerman et al. (2008). HYS indicates patients that underwent hysterectomy (F3 at 27 year; F9 at 40 year; F19 at 36 year). T indicates the presence of tremors. ND, not determined or determined but not yet available in the database.