Cortical damage in the posterior visual pathway in patients with sialidosis type 1
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.
KeywordsCortical blindness Diffusion tensor imaging Posterior visual pathway Resting state fMRI Sialidosis
The imaging facility was supported by the Center for Advanced Molecular Imaging and Translation, Chang Gung Memorial Hospital and Medical Imaging Research Center, Institute for Radiological Research of Chang Gung University /Chang Gung Memorial Hospital, Linkou. The patients were referred by Neuroscience Research Center of Chang Gung Memorial Hospital. The authors would like to thank Healthy Aging Research Center, Chang Gung University for additional support. The funding source had no involvement in the collection, analysis and interpretation data; in the writing of the report; and in the decision to submit the paper for publication.
Author contribution statement
Chin-Song Lu: substantial contributions to conception and design; drafting the article or revising it critically for important intellectual content;
Ling-Yuh Kao: analysis and interpretation of data;
Yi-Ming Wu: analysis and interpretation of data;
Jiun-Jie Wang: substantial contributions to conception and design; drafting the article; revising it critically for important intellectual content; final approval of the version to be published.
Compliance with ethical standards
Conflict of interest
The authors declare no conflict of interest.
This work was supported by grants from the Ministry of Science and Technology Taiwan (MOST103-2325-B-182-001), the Ministry of Education Taiwan (EMRPD1D0951 and EMRPD1E1731) and Chang-Gung University/Chang-Gung Memorial Hospital (CMRPD1C0293, CMRPD3D0012, CIRPD1E0061, BMRP655, CMRPD1B0331 and CMRPD1B0332).
- Bullmore, E. T., Suckling, J., Overmeyer, S., Rabe-Hesketh, S., Taylor, E., & Brammer, M. J. (1999). Global, voxel, and cluster tests, by theory and permutation, for a difference between two groups of structural MR images of the brain. IEEE Transactions on Medical Imaging, 18(1), 32–42.CrossRefPubMedGoogle Scholar
- Chao-Gan, Y., & Yu-Feng, Z. (2010). DPARSF: a MATLAB toolbox for "pipeline" data analysis of resting-state fMRI. Frontiers in Systems Neuroscience, 413.Google Scholar
- Cook, P. A., Bai, Y., Nedjati-Gilani, S., Seunarine, K. K., Hall, M. G., Parker, G. J., Camino, D. C. Alexander (2006) Open-Source Diffusion-MRI Reconstruction and Processing. In 14th scientific meeting of the international society for magnetic resonance in medicine, (pp. 2759) Seattle.Google Scholar
- Greicius, M. D., Srivastava, G., Reiss, A. L., & Menon, V. (2004). Default-mode network activity distinguishes Alzheimer's disease from healthy aging: evidence from functional MRI. Proceedings of the National Academy of Sciences of the United States of America, 101(13), 4637–4642.CrossRefPubMedPubMedCentralGoogle Scholar
- Huang, Y. Z., Lai, S. C., Lu, C. S., Weng, Y. H., Chuang, W. L., & Chen, R. S. (2008). Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I. Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology, 119(5), 1042–1050.CrossRefGoogle Scholar
- Lai, S. C., Chen, R. S., Wu Chou, Y. H., Chang, H. C., Kao, L. Y., Huang, Y. Z., et al. (2009). A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome. European Journal of Neurology: The Official Journal of the European Federation of Neurological Societies, 16(8), 912–919.CrossRefGoogle Scholar
- Pattison, S., Pankarican, M., Rupar, C. A., Graham, F. L., & Igdoura, S. A. (2004). Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Human Mutation, 23(1), 32–39.CrossRefPubMedGoogle Scholar