Thesis

25 Introduction Table 1. Continued. Study Neuroimaging technique Disorder Sample size (number of females) Mean age, years (SD) Diagnosis * Medicated: unmedicated Main findings in patients (compared to controls) Patients Controls Patients Controls Kreckova et al. 2019 Manual tracing (1.5T) NT1 48 (22) 37 (21) 40 (17) 36.3 (8.8) MSLT, cataplexy, HLA NR Reduced anterior hippocampus volume (10.5%); negative correlation between anterior hippocampus volume and disease duration. Pomares et al. 2019 Automated segmentation (3T) IH 12 (9) 15 (9) 33.4 (10.1) 31.2 (9.8) PSG, MSLT 12**:0 Increased volume and cortical thickness in the precuneus in IH. Greater positive correlation between left medial prefrontal cortex and precuneus thickness in IH. Jeon et al. 2020 Automated segmentation (3T) NT1 17 (4) 83 (20) 30.5 (6.4) 32.8 (8.6) PSG, MSLT, cataplexy, HLA 17:0 Longitudinal progressive cortical thinning across bilateral dorsolateral frontal and fusiform cortices, right anterior cingulate. Faster progressive cortical thinning and worse disease severity over time in the people with NT1 with early-onset. Xiao et al. 2021 Automated segmentation (3T) NT1 51 (13) 60 (18) 20.1 (7.7) 19.4 (7.0) PSG, MSLT, cataplexy 0:51 Reduced cortical thickness in the bilateral frontal cortex and left precuneus in paediatric NT1. Mixed increased and reduced gyrification in NT1 in the frontal, occipital, parietal and temporal lobes, which correlated with sleepiness severity and hypnagogic hallucinations. Kim et al. 2022 Automated segmentation (3T) NT1 + NT2 NT1: 9 NT2: 6 (8) † 19 (10) 33.2 (15.5) † 36.7 (8.3) PSG, MSLT, cataplexy 0:15 No change in overall hypothalamus or subunits. Reduced path lengths of hypothalamic subunits in narcolepsy. Juvodden et al. 2023 Automated segmentation (3T) NT1 54 (39) 114 (77) 21.8 (11.0) 23.2 (9.0) PSG, MSLT, cataplexy, CSF, HLA 49**:5 Increased volume in the bilateral overall hypothalamus and inferior tubular-inferior subregions in NT1. 1

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