Fig. 1: Selection of HD study population with extremes of onset or phenotype. | Nature Neuroscience

Fig. 1: Selection of HD study population with extremes of onset or phenotype.

From: Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

Fig. 1

a, REGISTRY-HD group. Age at motor onset against inherited pure CAG length for 6,086 patients with HD with 40–55 CAGs in the REGISTRY-HD study, using repeat lengths previously determined by PCR fragment length analysis. Individuals with very early (orange, n = 250) or very late (green, n = 250) motor onset given their inherited CAG length were selected for analysis. b, c, PREDICT-HD group, extremes of phenotype. Individuals with more severe (red dots) or less severe (blue dots) clinical phenotypes in the PREDICT-HD cohort were selected for analysis. Residuals from LOESS were used to identify individuals using TMS (n = 117) (b) or SDMT (n = 85) (c) and are plotted against CAP score to visualize age and CAG effects. Higher CAP scores represent greater disease burden. d, PREDICT-HD group, extremely early or late onset (predicted). A time-to-onset model was used to stratify the PREDICT-HD population and select a further cohort of predicted extreme early (red dots) or late (blue dots) onset individuals (n = 119 selected).

Back to article page