Thesis

26 Chapter 1 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 Juvodden et al. 2024 Automated segmentation (3T) NT1 54 (39) 114 (77) 21.8 (11.0) 23.2 (9.0) PSG, MSLT, cataplexy, CSF, HLA 49**:5 Reduced cortical thickness in temporal regions in NT1. Scherfler et al. 2012 VBM + DWI (1.5T) NT1 16 (4) 12 (5) 56.8 (10.1) 59.8 (4.4) PSG, MSLT, cataplexy, HLA 10:6 No change in hippocampal GM. Reduced volume in the frontotemporal cortex. Impaired white matter tracts within the hypothalamus, frontotemporal and anterior cingulate cortices. Menzler et al. 2012 DWI (1.5T) NT1 8 (7) 12 (9) 49.5 (12.7) 56.8 (10.6) MSLT, cataplexy 8:0 Impaired WM within the hypothalamus, brainstem, caudate, frontotemporal and cingulate areas. Nakamura et al. 2013 DWI (1.5T) NT1 + NT2 NT1: 12 (3) NT2: 12 (6) 12 (6) NT1: 29.4 (4.9) NT2: 26.0 (5.2) 29.8 (2.2) PSG, MSLT, cataplexy 0:24 Impaired WM within the amygdala and frontoparietal cortex in NT1 and NT2. Park et al. 2016 DWI (3T) NT1 22 (12) 26 (11) 26.9 (7.9) 30.1 (11.1) PSG, MSLT, cataplexy, HLA 0:22 Impaired WM within the anterior cingulate, orbitofrontal cortex, frontal lobe, internal capsule, corpus callosum genu and thalamus. Tezer et al. 2018 DWI (3T) NT1 + NT2 NT1: 11 (7) NT2: 12 (5) 16 (9) NT1: 32.9 (11.2) NT2: 34.6 (12.1) 36.4 (11.3) PSG, MSLT, cataplexy NT1: 2:9 NT2: 2:10 Impaired WM in both NT1 and NT2 within the thalamus, corpus callosum body, midbrain, cerebellum, temporal and parahippocampal cortex and anterior internal capsule. Juvodden et al. 2018 DWI (3T) NT1 57 (39) 109 (67) 21.8 (11.0) 19.1 (8.3) PSG, MSLT, cataplexy, CSF, HLA 57**:0 Brain-wide impaired WM except for cerebellum.

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