Fig. 5

Expansion of the CCCTCT LIPG repeat and HTT CAG repeat in comparison to the XDP CCCTCT repeat. a Distribution of expansion indices of LIPG and XDP CCCTCT repeats in XDP postmortem brain tissues. Box-whisker plots show median ± IQR and dots show values for individual alleles. XDP repeat: data are the same as in Fig. 2. LIPG repeat: Cereb = Cerebellum (n = 23 individuals, 40 alleles), Cd = Caudate (n = 5 patients, 10 alleles), Hip = Hippocampus (n = 6 patients, 10 alleles), BA9 = frontal cortex Brodmann area 9 (n = 6 patients, 11 alleles), TmP = Temporal pole (n = 6 patients, 12 alleles), Oc. Cx = Occipital cortex (n = 5 patients, 10 alleles). Note that some alleles that failed QC were excluded. b Linear regression analyses showing relationships between LIPG CCCCTC repeat length and expansion index in each brain region. The regression equations shown in bold font highlight those tissues (caudate, BA9, temporal pole and occipital cortex) showing a significant association of expansion index with repeat length. Grey shaded areas show 95% confidence interval. c Correlation of mean HTT CAG expansion index in three HD individuals (Materials and Methods) and mean XDP CCCTCT expansion indices. Refer to Additional File1: Table S3 and Table S6 for sample numbers for each brain region for XDP and LIPG respectively