Table 3

The prevalence of the SCA 8 expansion (>91 CTA/CTG repeats) in unrelated patients with undiagnosed ataxia and controls

SeriesControl subjectsAtaxic subjects (‘f’  = number of familial cases)
>91 repeatsSample sizeType of control groupSignificance†>91 repeatsSample sizeComments
†Fisher’s exact test compared with all ataxic subjects.
*Mixed healthy and pathological (non-ataxic) controls.
**Excluding data from this study.
Koob20600Healthy7 (7f)209 (209f)
Silveira50909Healthy5 (5f)73 (73f)
Ikeda7052Healthy4 (2f)63 (22f)
Stevanin143188Healthy8 (7f)250 (174f)
246Other neurological disorder
Worth155653Mixed*3 (2f)264 (119f)
Vincent6,235916Healthy
Vincent, personal communication191359Psychiatric
Juvonen2413448Healthy22 (13f)251 (86f)
Sasaki25042 (42f)
Sobrido171112Alzheimer’s2 (1f)135 (50f)
Cellini260161Healthy1 (1f)113 (50f)
0125Psychiatric
Brusco270127Healthy2 (2f)134 (22f)
Tazon281149Healthy3 (3f)75 (19f)
Topisirovic290125Healthy1 (0f)115 (91f)
064Other neurological disorder
070Schizophrenia
Izumi303327Healthy13 (5f)362 (119f)
0158Alzheimer’s
1224Parkinson’s
Zeman (this study)31190Healthy6173Proportion of familial cases in ataxic patients without SCA8 expansion unknown
2137?Huntington’s disease
0176Schizophrenia
Subtotals285192 (0.54%)Healthyp<0.000148 (4.46%)1076All familial cases**
191730 (1.16%)Psychiatricp<0.000123 (2.28%)1010All sporadic cases** (p<0.01 familial v sporadic)
6741 (0.81%)Other neurological disorderp<0.0001
5653 (0.92%)Mixed*
Totals 58 8316 (0.70%) All controls p<0.0001 77 (3.41%) 2259 All cases of undiagnosed ataxia