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. 2019 May 1;6(6):1046–1052. doi: 10.1002/acn3.781

Table 3.

Site investigators (SIs) reasons for believing that subjects were HD gene‐positive by CAG and diagnostic confidence level (DCL)

Reasons for believing that subject is gene positive CAG < 37 N = 434 visits CAG ≥ 37 N = 906 visits
DCL 0–2 N = 391 visits DCL 3–4 N = 43 visits DCL 0–2 N = 510 visits DCL 3–4 N = 394 visits
Motor 290 (75%) 36 (84%) 410 (81%) 390 (99%)
Cognitive 49 (13%) 13 (32%) 81 (16%) 189 (48%)
Behavioral 130 (34%) 23 (56%) 169 (34%) 176 (45%)
Functional 17 (4%) 0 (0%) 32 (6%) 108 (28%)

Subject visits where site investigator thought that the subject was gene positive: multiple visits per subject (N = 1340 visits). SI motor evaluation and reasons for believing that subject is gene positive; multiple reasons could be selected.