Table 1 Clinical features of patients with FXTAS in the literature
Case | Sex | Onset age (y) | Duration (y) | Primary diagnosis | Initial symptom | Kinetic Tremor | Intention tremor | Postural tremor | Rest tremor | Orthostatic tremor | Head or voice tremor | Ataxia | Cognitive problem | Parkinsonism | CGG repeat | Family history | Ref |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 63 | 8 | ET | tremor | Y | N | Y | N | N | N | Y | Y | N | 83 | PD, FXS, ADHD | [1] |
2 | F | 60 | 6 | NA | gait | N | Y | N | N | N | N | Y | Y | N | 77/77 | neurological problem | [5] |
3 | M | 52 | 3 | NA | tremor | N | Y | N | N | N | N | N | Y | N | 77 | FXTAS | [5] |
4 | F | 80 | 12 | NA | gait | N | Y | N | N | N | N | Y | Y | N | 30/77 | FXTAS | [5] |
5 | M | 58 | 8 | ET | tremor | Y | Y | Y | N | N | N | Y | Y | N | 95 | FXPOI, mental retardation | [6] |
6 | M | 54 | 11 | NA | tremor | N | Y | Y | N | N | N | Y | Y | Y | 98 | FXS,PD | [7] |
7 | F | 68 | 8 | ET | tremor | N | N | Y | N | N | voice | Y | Y | N | 31/95–105 | FXS | [8] |
8 | M | 55 | 4 | Cerebellar atrophy | gait ataxia | N | N | N | N | N | N | Y | Y | Y | 110 | gait problem, parkinsonism,cognitive | [9] |
9 | F | 54 | 4 | MSA | gait ataxia | N | N | N | Y | N | N | Y | N | Y | 29/135 | N | [9] |
10 | M | 54 | 11 | NA | cognitive | Y | N | N | Y | N | N | Y | Y | Y | 297–480 | Fragile X family | [10] |
11 | F | 41 | 26 | NA | tremor | Y | Y | Y | Y | N | head | Y | N | Y | 18/90 | N | [11] |
12 | F | 30 | 27 | NA | tremor | N | Y | N | N | N | N | Y | N | N | 29/93 | FXS | [11] |
13 | F | 75 | 10 | NA | anxiety depression | N | Y | N | N | N | N | Y | N | N | 29/87 | FXS | [11] |
14 | F | 52 | 10 | NA | tremor | N | Y | N | Y | N | N | N | N | N | 18/90 | FXS | [11] |
15 | F | 71 | 4 | NA | Gait, tremor | N | Y | N | N | N | N | Y | N | Y | 30/78 | N | [11] |
16 | M | 60 | 0.5 | NA | tremor, gait | NA | NA | NA | NA | NA | head | Y | N | N | NA | NA | [12] |
17 | M | 65 | 9 | NA | tremor | NA | NA | NA | NA | NA | NA | Y | N | N | 95 | N | [12] |
18 | F | 56 | 6 | NA | gait | Y | Y | N | N | N | N | Y | Y | N | 75 | FXS | [13] |
19 | M | in late 20s | about 5 | NA | tremor | N | Y | Y | N | N | N | Y | Y | N | 88 | FXTAS | [14] |
20 | M | 58 | 2 | NA | gait | Y | N | N | N | N | N | Y | Y | N | 114 | FXPOI | [15] |
21 | M | 53 | 4 | cerebellar ataxia | ataxia | N | N | N | N | N | N | Y | Y | N | 100 | balance disorder, FXPOI | [16] |
22 | M | 65 | 2 | NA | gait | N | N | N | N | N | N | Y | Y | Y | 87 | N | [16] |
23 | M | 68 | 8 | NA | Gait ataxia | N | N | N | Y | N | N | Y | Y | Y | 78 | FXS, FXPOI | [17] |
24 | F | About 65 | About 5 | NA | gait tremor | N | N | Y | N | N | head | Y | Y | N | 95 | FXS | [18] |
25 | M | about 60 | About 5 | NA | tremor | N | Y | N | Y | N | N | Y | Y | N | 75 | FXS | [19] |
26 | M | 62 | 0 | NA | cognitive | NA | NA | NA | NA | NA | NA | Y | Y | N | 59–200 | N | [20] |
27 | M | 63 | 1.5 | NA | personality change | N | N | N | N | N | N | Y | Y | Y | > 90 | FXS | [20] |
28 | M | 64 | 6 | NA | ataxia | N | Y | Y | N | N | N | Y | Y | Y | mosaic 180–410, | FXS | [21] |
29 | M | 61 | 4 | NA | tremor | NA | NA | NA | NA | NA | NA | Y | Y | N | 93 | FXS. | [22] |
30 | M | 44 | 14 | NA | Autonomic Symptom | N | Y | N | N | N | N | Y | Y | N | 20–800 mosaic | FXS | [23] |
31 | F | 60 | 5 | NA | cognitive | N | Y | Y | N | N | head | Y | Y | N | 57 | N | [24] |
32 | M | 66 | 0 | NA | tremor | N | Y | N | N | N | N | Y | Y | Y | 200 | N | [25] |
33 | M | 49 | 14 | CMT | numbness | N | Y | N | N | N | N | Y | Y | N | 103 | N | [26] |
34 | M | 58 | 6 | CMT | weakness, numbness | N | Y | N | N | N | N | Y | N | N | 72 | N | [26] |
35 | M | 59 | 7 | NA | gait ataxia | N | Y | N | N | N | N | Y | N | N | 116 | N | [26] |
36 | F | 61 | 4 | NA | numbness pain | N | Y | N | N | N | N | Y | N | N | 20/79 | N | [26] |
37 | M | 73 | 0 | NA | through a family research study | N | N | N | N | N | N | N | N | N | 64 | FXS | [26] |
38 | M | 77 | 3 | NA | diplopia | N | Y | N | Y | N | N | Y | Y | N | NA | FXS | [27] |
39 | M | 45 | 1 | PD | tremor | N | N | N | Y | N | N | N | Y | Y | 60 | N | [28] |
40 | F | 76 | 10 | PD | tremor | N | N | N | Y | N | N | N | Y | Y | 60 | with mutation of FMR1 | [28] |
41 | F | 68 | 5 | PD | tremor micrographia | N | N | N | Y | N | N | Y | Y | Y | 86 | with mutation of FMR1 | [28] |
42 | M | 60 | 12 | PD | balance problem | N | N | N | Y | N | head | N | N | Y | 64 | With mutation of FMR1 | [28] |
43 | M | 64 | 2 | depression | pathological crying | N | N | N | N | N | N | N | Y | N | NA | N | [29] |
44 | M | 56 | 7 | ET | tremor | Y | N | Y | N | N | N | Y | N | N | 155 | tremor | [30] |
45 | M | 50 | 4 | PD | tremor | Y | N | Y | Y | N | N | Y | Y | N | 109 | N | [31] |
46 | F | 56 | 6 | NA | Sensation problem | N | N | N | N | N | N | Y | N | N | 88 | FXS | [32] |
47 | M | 71 | 3 | NA | gait | Y | Y | N | N | N | N | Y | Y | N | 88 | FXS | [33] |
48 | M | 65 | 5 | NA | cognitive | Y | N | N | N | N | N | Y | Y | N | 104 | FXS, FXTAS | [33] |
49 | M | 65 | 3 | NA | cognitive | N | N | N | N | N | N | N | Y | N | 110 | FXS, FXTAS | [33] |
50 | M | 67 | NA | NA | unsteadiness | Y | N | Y | N | N | N | N | N | N | 57 | FXS | [34] |
51 | M | 46 | 7 | NA | anxiety | N | N | N | N | N | N | N | N | N | 56 | FXS | [34] |
52 | M | 61 | 2 | NA | fall attack | N | Y | N | N | N | N | Y | N | N | 99 | FXS | [34] |
53 | M | 67 | 3 | NA | balance problem | Y | N | N | N | N | N | Y | Y | Y | 99 | FXS, FXPOI | [4] |
54 | F | 74 | 1 | NA | balance problem | Y | N | N | N | N | N | Y | Y | Y | 90/29 | FXS | [4] |
55 | F | 65 | 10 | Plantar fasciitis | gait | N | N | N | Y | N | N | Y | Y | Y | 88 | FXPOI, FXTAS | [4] |
56 | M | 77 | 3 | PD | gait | Y | N | N | Y | N | N | Y | Y | Y | 68 | FXS | [4] |
57 | F | 56 | 3 | NA | tremor | Y | Y | Y | N | Y | N | Y | Y | Y | 82 | FXS | [35] |
58 | M | 72 | 9 | NA | tremor | Y | NA | Y | Y | N | N | Y | Y | Y | 85 | FXS | [35] |
59 | M | 50 | 22 | NA | tremor | Y | Y | Y | Y | N | N | Y | Y | Y | 90 | with mutation of FMR1 | [35] |
60 | M | 65 | 9 | NA | cognitive | Y | NA | Y | Y | N | Head,voice | Y | Y | Y | 87 | FXS | [35] |
61 | M | NA | NA | NA | NA | Y | NA | N | N | N | NA | Y | Y | Y | 110 | NA | [35] |
62 | M | NA | NA | NA | NA | Y | NA | Y | Y | N | NA | Y | Y | Y | 71 | NA | [35] |
63 | F | NA | NA | NA | NA | Y | NA | Y | Y | N | NA | Y | Y | Y | NA | NA | [35] |
64 | M | NA | NA | NA | NA | Y | NA | Y | Y | Y | NA | Y | Y | Y | 100 | NA | [35] |