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. 2023 Jan 11;43(2):333–345. doi: 10.1523/JNEUROSCI.1448-22.2022

Figure 1.

Figure 1.

Comparisons of whole thalamic volume and thalamic nuclei volumes in C9orf72 HRE carriers versus controls. A, A box plot illustrates the results of a multiple regression analysis comparing total thalamic volume in C9orf72 carriers of all diagnoses to controls. Across all diagnoses and accounting for the presence as well as severity of a disease (as measured by the CDR-SB score), C9orf72 carriers demonstrated lower total thalamic volumes compared with controls (p = 1.57 × 10−6). Additional covariates included in this analysis were age, sex, education, MRI scanner type (1.5T, 3T, or 4T), and TIV. B, A box plot illustrates the results of a multiple regression analysis comparing total thalamic volumes in C9orf72 HRE carriers versus controls by diagnosis. Of the four diagnostic groupings, three demonstrated a statistically significant difference versus controls, FTD (p = 0.005), MCI (p = 3.03 × 10−6), and presymptomatic (presymp; p = 0.003). The FTD-ALS group was not significantly different from controls (p = 0.16). Covariates included in this analysis were age, sex, education, MRI scanner type, CDR-SB score, and TIV. C, Hierarchical clustering analyses of all thalamic nuclei volumes, which significantly differed in C9orf72 HRE carriers compared with controls at pFDR < 0.05, are shown. The analysis revealed three primary groups—an FTD-like group (composed almost exclusively of FTD cases, plus two FTD-ALS cases and an MCI case), a control-like group (composed mostly of controls, plus presymptomatic C9orf72 carriers, and an MCI case), and a more heterogeneous group consisting of controls and largely non-FTD cases (presymptomatic C9orf72 carriers, MCI cases, and FTD-ALS cases). Ant, Anterior; Inf, Inferior; Intralam, Intralaminar; L, left; Lat, lateral; Magno, magnocellular; MD, mediodorsal; Med, medial; Parvo, parvocellular; Vent, ventral. The covariates used in our multiple regression analyses comparing individual thalamic nuclei by C9orf72 carrier status were the same as in B. Extended Data Figure 1-1 shows full results from the regression analyses.