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

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, 18 F-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.