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

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 yo

SUBMITTER: Lv RJ 

PROVIDER: S-EPMC7318099 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature