Table 2.
Clinical and demographic characteristics of SCA3 mutation carriers for each haplotype of the expanded allele (bp987 and bp1118)
| Haplotype, expanded allele bp987–bp1118 | Sign | p value | ||||
|---|---|---|---|---|---|---|
| Cytosine–Adenine | Guanine–Cytosine | Cytosine–Cytosine | Guanine–Adenine | |||
| N | 189 | 66 | 15 | 10 | n.a | |
| N male/female (%) | 96/93 (50.8/49.2) | 30/36 (45.5/54.5) | 8/7 (53.3/46.7) | 4/6 (40/60) | 0.801 | |
|
Age at baseline Mean [SD] |
48.14 [12.41] | 48.23 [14.24] | 45.83 [12.72] | 51.87 [16.14] | 0.732 | |
|
CAG repeats longer allele Median [IQR] |
69.00 [66.00, 71.00] | 70.00 [66.00, 71.75] | 70.00 [67.50, 72.00] | 67.50 [66.25, 70.00] | 0.613 | |
|
Age of onset Mean [SD] |
40.75 [9.36] | 40.64 [10.84] | 36.67 [6.77] | 36.20 [13.16] | 0.232 | |
|
SARA sum score Median [IQR] |
9.50 [4.00, 16.00] | 9.00 [4.00, 17.25] | 13.50 [8.00, 23.75] | 20.00 [15.62, 22.25] | * | 0.013 |
|
SARA sum score annual progression Median [IQR] |
0.86 [0.00, 1.98] | 0.56 [− 0.38, 2.19] | 2.76 [0.52, 4.07] | 0.66 [0.28, 1.67] | 0.213 | |
|
INAS count Median [IQR] |
4.00 [2.00, 7.00] | 5.00 [3.00, 6.75] | 4.00 [3.50, 5.50] | 8.00 [5.50, 9.00] | 0.093 | |
|
Disease duration at baseline, in years4 Median [IQR] |
8.03 [3.40, 13.84] | 8.36 [2.98, 13.52] | 10.87 [5.37, 18.77] | 17.50 [12.05, 21.99] | 0.593 | |
n.a. non applicable, sign. Significance, IQR interquatile range, SD standard deviation; *p < 0.05
1Fisher-Test
2One-way Anova
3Kruskal–Wallis Test
4Disease duration is defined as the time from the age of onset (detailed description is given in the Methods section) until baseline visit, in years