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Table 1 Characteristics of cases undergoing genetic test for HD

From: Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre

  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)
  1. Demographic, clinical characteristics and genetic test results expressed in terms of absolute and percentage relative frequencies: N (%)