title: Cortical damage in the posterior visual pathway in patients with sialidosis type 1.
abstract: In order to identify the cortical changes in patients with Sialidosis type 1, diffusion tensor imaging and resting state fMRI were acquired from 11 patients and 11 sex/age matched normal controls after clinical evaluations. The neuroimages from each participant were normalized and parcellated according to the Automatic Anatomical Labeling. Both the mean diffusivity and the corresponding functional connectivity were calculated from each cortical region. The white matter tract integrity was examined. The difference between patients and controls was examined using Student's t-test and between patients with either homozygous or heterozygous mutations by Mann-Whitney U test, both at a threshold of 0.05. Increased mean diffusivity throughout the brain can be noticed in the patients, together with a compromised white matter tracts integrity. The most severely affected cortical regions are in the occipital lobe. Decreased functional connectivity was from the temporal and occipital lobes to the hippocampus and parahippocampus. In contrast, connectivity from thalamus was enhanced. Diffused cortical atrophy with posterior focal lesions was noticed. We concluded that MRI observed functional changes in the posterior cortical pathways in the patients with Sialidosis. The observation might be related to the cortical blindness due to an altered neural network and a compromised visual pathway in the patients.
authors: Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|School of Traditional Chinese Medicine, Chang Gung University, Taoyuan, Taiwan.
authors: Chin-Song
authors: CS
authors: Lu
authors: Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Linkou, Taiwan.
authors: Shu-Hang
authors: SH
authors: Ng
authors: Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
authors: Szu-Chia
authors: SC
authors: Lai
authors: Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors: Ling-Yuh
authors: LY
authors: Kao
authors: Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors: Laura
authors: L
authors: Liu
authors: Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
authors: Wey-Yil
authors: WY
authors: Lin
authors: Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Linkou, Taiwan.|Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Keelung, Taiwan.
authors: Yi-Ming
authors: YM
authors: Wu
authors: Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Linkou, Taiwan.|Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Keelung, Taiwan.
authors: Yao-Liang
authors: YL
authors: Chen
authors: Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan. jwang@mail.cgu.edu.tw.|Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Linkou, Taiwan. jwang@mail.cgu.edu.tw.|Department of Medical Imaging and Radiological Sciences, Chang Gung University, 259 WenHua 1st road, TaoYuan county, 333, Taiwan. jwang@mail.cgu.edu.tw.|Medical Imaging Research Center, Institute for Radiological Research, Chang Gung University, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan. jwang@mail.cgu.edu.tw.
authors: Jiun-Jie
authors: JJ
authors: Wang
mesh_terms: D000328:Adult; D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D001931:Brain Mapping; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009081:Mucolipidoses / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D012146:Rest; D014786:Vision Disorders / Q000000981:diagnostic imaging / Q000209:etiology / Q000503:physiopathology; D014795:Visual Pathways / Q000000981:diagnostic imaging / Q000503:physiopathology; D055815:Young Adult
keywords: Cortical blindness; Diffusion tensor imaging; Posterior visual pathway; Resting state fMRI; Sialidosis