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Cortical damage in the posterior visual pathway in patients with sialidosis type 1

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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.

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Acknowledgments

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;

Shu-Hang Ng:

Szu-Chia Lai:

Ling-Yuh Kao: analysis and interpretation of data;

Laura Liu:

Wey-Yil Lin:

Yi-Ming Wu: analysis and interpretation of data;

Yao-Liang Chen:

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.

Author information

Authors and Affiliations

  1. Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan

    Chin-Song Lu, Szu-Chia Lai & Wey-Yil Lin

  2. Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan

    Chin-Song Lu, Szu-Chia Lai, Wey-Yil Lin & Jiun-Jie Wang

  3. School of Traditional Chinese Medicine, Chang Gung University, Taoyuan, Taiwan

    Chin-Song Lu

  4. Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Linkou, Taiwan

    Shu-Hang Ng, Yi-Ming Wu, Yao-Liang Chen & Jiun-Jie Wang

  5. Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Keelung, Taiwan

    Yi-Ming Wu & Yao-Liang Chen

  6. Department of Medical Imaging and Radiological Sciences, Chang Gung University, 259 WenHua 1st road, TaoYuan county, 333, Taiwan

    Jiun-Jie Wang

  7. Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan

    Ling-Yuh Kao & Laura Liu

  8. College of Medicine, Chang Gung University, Taoyuan, Taiwan

    Ling-Yuh Kao & Laura Liu

  9. Medical Imaging Research Center, Institute for Radiological Research, Chang Gung University, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan

    Jiun-Jie Wang

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  1. Chin-Song Lu
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Correspondence to Jiun-Jie Wang.

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The authors declare no conflict of interest.

Fundings

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).

Additional information

Chin-Song Lu and Shu-Hang Ng these two authors contributed equally

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Lu, CS., Ng, SH., Lai, SC. et al. Cortical damage in the posterior visual pathway in patients with sialidosis type 1. Brain Imaging and Behavior 11, 214–223 (2017). https://doi.org/10.1007/s11682-016-9517-6

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  • DOI: https://doi.org/10.1007/s11682-016-9517-6

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