The prevalence of the SCA 8 expansion (>91 CTA/CTG repeats) in unrelated patients with undiagnosed ataxia and controls
| Series | Control subjects | Ataxic subjects (‘f’ = number of familial cases) | |||||
|---|---|---|---|---|---|---|---|
| >91 repeats | Sample size | Type of control group | Significance† | >91 repeats | Sample size | Comments | |
| †Fisher’s exact test compared with all ataxic subjects. | |||||||
| *Mixed healthy and pathological (non-ataxic) controls. | |||||||
| **Excluding data from this study. | |||||||
| Koob2 | 0 | 600 | Healthy | 7 (7f) | 209 (209f) | ||
| Silveira5 | 0 | 909 | Healthy | 5 (5f) | 73 (73f) | ||
| Ikeda7 | 0 | 52 | Healthy | 4 (2f) | 63 (22f) | ||
| Stevanin14 | 3 | 188 | Healthy | 8 (7f) | 250 (174f) | ||
| 2 | 46 | Other neurological disorder | |||||
| Worth15 | 5 | 653 | Mixed* | 3 (2f) | 264 (119f) | ||
| Vincent6,23 | 5 | 916 | Healthy | ||||
| Vincent, personal communication | 19 | 1359 | Psychiatric | ||||
| Juvonen24 | 13 | 448 | Healthy | 22 (13f) | 251 (86f) | ||
| Sasaki25 | 0 | 42 (42f) | |||||
| Sobrido17 | 1 | 112 | Alzheimer’s | 2 (1f) | 135 (50f) | ||
| Cellini26 | 0 | 161 | Healthy | 1 (1f) | 113 (50f) | ||
| 0 | 125 | Psychiatric | |||||
| Brusco27 | 0 | 127 | Healthy | 2 (2f) | 134 (22f) | ||
| Tazon28 | 1 | 149 | Healthy | 3 (3f) | 75 (19f) | ||
| Topisirovic29 | 0 | 125 | Healthy | 1 (0f) | 115 (91f) | ||
| 0 | 64 | Other neurological disorder | |||||
| 0 | 70 | Schizophrenia | |||||
| Izumi30 | 3 | 327 | Healthy | 13 (5f) | 362 (119f) | ||
| 0 | 158 | Alzheimer’s | |||||
| 1 | 224 | Parkinson’s | |||||
| Zeman (this study) | 3 | 1190 | Healthy | 6 | 173 | Proportion of familial cases in ataxic patients without SCA8 expansion unknown | |
| 2 | 137 | ?Huntington’s disease | |||||
| 0 | 176 | Schizophrenia | |||||
| Subtotals | 28 | 5192 (0.54%) | Healthy | p<0.0001 | 48 (4.46%) | 1076 | All familial cases** |
| 19 | 1730 (1.16%) | Psychiatric | p<0.0001 | 23 (2.28%) | 1010 | All sporadic cases** (p<0.01 familial v sporadic) | |
| 6 | 741 (0.81%) | Other neurological disorder | p<0.0001 | ||||
| 5 | 653 (0.92%) | Mixed* | |||||
| Totals | 58 | 8316 (0.70%) | All controls | p<0.0001 | 77 (3.41%) | 2259 | All cases of undiagnosed ataxia |