Table 1 Characteristics of cases undergoing genetic test for HD
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) |