Fig. 1

Length of the CCCTCT repeat correlates with AAO and AAD in male XDP patients. a Inverse correlations between CCCTCT repeat length in blood (red dots and line, n = 266) and brain (blue dots and line, n = 40) with AAO. As this is a founder population, all the affected are related to each other to some extent. Repeating the regression analysis using relatedness as a covariate (where 126 “related” individuals are relative pairs as far removed as second cousins) still resulted in a highly significant association between repeat length and age at onset (p = 2e-16). b Inverse correlation between CCCTCT repeat length determined in a subgroup of blood and brain samples from deceased XDP patients (blood n = 28; brain n = 40) and AAO. c Inverse correlation between CCCTCT repeat length determined in a subgroup of blood and brain samples from deceased XDP patients (blood n = 28; brain n = 40) and AAD. d Length of the CCCTCT repeat determined in the subgroup of blood and brain samples from deceased XDP patients (blood n = 28; brain n = 40) is not correlated with disease duration (AAD-AAO). AAO, age at onset; AAD, age at death. Brain repeat lengths were determined in cerebellum (n = 39) or occipital cortex (n = 1). In a–d, blood (red dots) and brain samples (blue dots)