| |
CAG repeats ≥36
|
CAG repeats < 36
|
Total
|
|---|
|
Sex
|
|
Males
|
21 (42.0)
|
58 (45.0)
|
79 (44.1)
|
|
Females
|
29 (58.0)
|
71 (55.0)
|
100 (55.9)
|
|
Age of testing (years)
|
|
< 20
|
1 (2.0)
|
4 (3.1)
|
5 (2.8)
|
|
20–39
|
14 (28.0)
|
24 (18.6)
|
38 (21.2)
|
|
40–49
|
6 (12.0)
|
20 (15.5)
|
26 (14.5)
|
|
50–59
|
9 (18.0)
|
25 (19.4)
|
34 (19.0)
|
|
> 60
|
20 (40.0)
|
56 (43.4)
|
76 (42.5)
|
|
Clinical manifestations
|
|
Neurological
|
21 (42.0)
|
69 (53.5)
|
90 (50.3)
|
|
Psychiatric
|
4 (8.0)
|
2 (1.5)
|
6 (3.3)
|
|
Mixed
|
12 (24.0)
|
20 (15.5)
|
32 (17.9)
|
|
Asymptomatic
|
13 (26.0)
|
38 (29.5)
|
51 (28.5)
|
|
Types of testing
|
|
Diagnostic
|
37 (74.0)
|
91 (70.6)
|
128 (71.5)
|
|
Predictive
|
11 (22.0)
|
35 (27.1)
|
46 (25.7)
|
|
Prenatal
|
2 (4.0)
|
3 (2.3)
|
5 (2.8)
|
|
Sample
|
|
Peripheral blood
|
48 (96.0)
|
126 (97.7)
|
174 (97.2)
|
|
Amniotic fluid
|
1 (2.0)
|
1 (0.8)
|
2 (1.1)
|
|
Chorionic villi
|
1 (2.0)
|
2 (1.5)
|
3 (1.7)
|
|
Zygosity
|
|
Homozygous
|
0 (0.0)
|
47 (36.4)
|
47 (26.3)
|
|
Heterozygous
|
50 (100.0)
|
82 (63.6)
|
132 (73.7)
|
- Demographic, clinical characteristics and genetic test results expressed in terms of absolute and percentage relative frequencies: N (%)
