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Clinical and genetic characteristics of type I sialidosis patients in mainland China

Clinical and genetic characteristics of type I sialidosis patients in mainland China

Authors :
Rui‐Juan Lv
Tao‐Ran Li
Yu‐Di Zhang
Xiao‐Qiu Shao
Qun Wang
Li‐Ri Jin
Source :
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 911-923 (2020)
Publication Year :
2020
Publisher :
Wiley, 2020.

Abstract

Abstract Objective Type I sialidosis (ST‐1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST‐1 patients in mainland China. Methods We reported in detail the cases of five Chinese ST‐1 patients from two centers, and summarized all worldwide cases. Then, we compared the differences between Chinese and foreign patients. Results A total of 77 genetically confirmed ST‐1 patients were identified: 12 from mainland China, 23 from Taiwan, 10 from other Asian regions, and 32 from European and American regions. The mean age of onset was 16.0 ± 6.7 years; the most common symptoms were myoclonus seizures (96.0%), followed by ataxia (94.3%), and blurred vision (67.2%). Compared to other groups, the onset age of patients from mainland China was much younger (10.8 ± 2.7 years). The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%–100%). Cherry‐red spots were less frequent in the Taiwanese patients than in patients from other regions (27.3% vs. 55.2%–90.0%). Furthermore, 48 different mutation types were identified. Chinese mainland and Taiwanese patients were more likely to carry the c.544A > G mutation (75% and 100%, respectively) than the patients from other regions (only 0%–10.0%). Approximately 50% of Chinese mainland patients carried the c.239C > T mutation, a much higher proportion than that found in the other populations. In addition, although the brain MRI of most patients was normal, 18F‐FDG‐PET analysis could reveal cerebellar and occipital lobe hypometabolism. Interpretation ST‐1 patients in different regions are likely to have different mutation types; environmental factors may influence clinical manifestations. Larger studies enrolling more patients are required.

Details

Language :
English
ISSN :
23289503 and 28224922
Volume :
7
Issue :
6
Database :
Directory of Open Access Journals
Journal :
Annals of Clinical and Translational Neurology
Publication Type :
Academic Journal
Accession number :
edsdoj.7e8f2de99dc64047b1d2822492236af7
Document Type :
article
Full Text :
https://doi.org/10.1002/acn3.51058