Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative diseases. Mutations in the spastin (SPG4) gene are responsible for approximately 40% of autosomal dominant HSP (AD-HSP) and 6.5-18% of sporadic cases. METHODS: Spastin mutations were screened in 11 AD-HSP families and 11 sporadic cases by direct sequencing and MLPA assay. Novel mutations were detected in 100 healthy controls by PCR-RFLP. RESULTS: We identified seven different spastin mutations in five probands and one sporadic patient. Two of seven mutations were novel. The c.458delT was a pathogenic mutation, but the effect of c.1724 G>T remained unknown. CONCLUSIONS: This study allowed us to estimate the frequency of the SPG4 mutations in Chinese at 45% (5/11) in families with AD-HSP and 9% (1/11) in sporadic cases. In addition, our data showed p.T614I was not associated with congenital arachnoid cysts.

Cognitive impairment using education-based cutoff points for CMMSE scores in elderly Chinese people of agricultural and rural Shanghai China.

OBJECTIVES: To evaluate cognitive impairment (CI) in rural China using the Chinese version of the Mini-Mental Status Examination (CMMSE) and compare the prevalence of CI using two different cutoff points. MATERIALS & METHODS: A population-based survey was conducted of 2809 people aged 60 years and above in a community of two towns (Huaxin and Xujing) in the Qingpu district, located in the western suburb of Shanghai. Face-to-face interviews were carried out to collect relevant information with questionnaires. The Chinese version of the Mini-Mental State Examination with either a 23/24 cutoff point or a cutoff point varying according to education level (AEL) was used to screen subjects for CI. RESULTS: Among these subjects, the mean age was 70.6 years (SD = 6.6) and ranged from 60 to 92 years and included 1010 (36.0%) men and 1799 (64.0%) women. The mean age was 70.7 years (SD = 6.4) for men and 70.5 years (SD = 6.7) for women. Of the 2809 subjects, 2010 (71.5%) had no formal education, 607 (21.6%) completed 1-6 years of education, and 173 (6.2%) completed more than 6 years of school education. The prevalence of CI was 35.6% (95% CI: 33.8-37.4) for both genders when the cutoff point of 23/24 was used. However, when the cutoff point was altered with respect to different education levels, the prevalence of CI was 7.0%. For each item of the CMMSE, increased years of education correlated with a higher item score, with the exception of the 'Naming' item score. CONCLUSIONS: This study demonstrates that screening of CI using the AEL cutoff scores is feasible in a low-education population. Determining whether the 23/24 cutoff point is suitable for the Chinese people requires future prospective studies in a large Chinese population.