ABSTRACT
<p><b>OBJECTIVE</b>To explore the role of sphingomyedlin phosphodiesterase 1 (SMPD1) gene mutations in the pathogenesis of Parkinson's disease (PD).</p><p><b>METHODS</b>For 110 Chinese patients with PD, all exons of the SMPD1 gene were sequenced, and the results were compared with reference sequence from GenBank to identify possible mutations.</p><p><b>RESULTS</b>A novel heterozygous mutation Ex2:c.677C>A/p.P226Q (likely pathogenic) was identified in a patient, which resulted in substitution of Glutamic acid by Proline at position 226. In addition, two known single nucleotide polymorphisms (SNPs) Ex1:c.107T>C/p.V36A (benign) and Ex6:c.1522G>A/p.G508R (benign), and three previously reported SMPD1 mutations Ex2:c.T371T>G/p.L124R (uncertain significance), Ex2:c.636T>C/P.(=)(benign) and Ex6:c.1598C>T/p.P533L (uncertain significance) were identified. The novel p.P226Q mutation and p.P533L mutation were predicted to have a possibly damaging effect on the structure and function of SMPD1 protein, which in turn may lead to PD.</p><p><b>CONCLUSION</b>The mutation rate of the SMPD1 gene was 3.64% among Chinese PD patients. Genetic variants of SMPD1 may increase the risk of PD.</p>
ABSTRACT
Objective To explore the influence of the cognitive function and related dangerous factors in patients lacunar infarction(LI) after carotid artery stenting (CAS).Methods Neuropsychological tests (MoCA and MMSE)were conducted in 43 patients with LI before CAS,1 month,6 months,1 year and 2 years after CAS and the scores were compared with those of 41 healthy cases.Results Compared with control group,in therapy group,MMSE scores before CAS,1 month and 6 months after CAS,MoCA scores before CAS(19.39 ±2.17) and 1 month after CAS(19.51 ± 1.99) and the scores of Cube Copying before CAS,Alternating Trail Making Test,attention and delayed recall before CAS,1 month after CAS and Clock Drawing before CAS,1 month and 6 months after CAS all lowered obviously.There were statistical differences(P＜ 0.05 or P ＜ 0.01).Compared with before CAS,in therapy group,MMSE scores and MoCA scores 6 months,1 year and 2 years after CAS,the scores of Alternating Trail Making Test 2 years after CAS,Cube Copying and Clock Drawing 1 year and 2 years after CAS and attention and delayed recall 6 months,1 year and 2 years after CAS all increased obviously.There were statistical differences (P ＜ 0.05 or P ＜ 0.01).In the follow-up of 2 years,the result of Logistic Regression Analysis showed that MoCA scores has correlation with age(OR =50.751,95％ CI 1.407 ～ 19.464; P =0.006),high blood pressure(0R=8.012,95％ CI1.212 ～27.550; P=0.042)and low levels of education(OR=11.586,95％ CI1.164～ 16.903 ; P =0.029) and no correlation with diabetes and CAS.Conclusion Cognitive impairment in patients with LI is improved 2 years after CAS,and visuospatial function,attention and delayed recall are significantly improved.But CAS is not independent protective factors for cognitive functions,and old age,low education levels and high blood pressure are independent risk factors for cognitive impairment in patients with LI.
ABSTRACT
ObjectiveTo explore the characteristics of the cognitive changes in patients with lacunar infarction(LI) after carotid artery stenting(CAS).MethodsNeuropsychological tests were conducted in 43 patients with LI and carotid stenosis before and 1 month,6 months,12 months after CAS and the scores were compared with those of 41 healthy cases.ResultsCompared with control group,MMSE scores ( 26.33 ± 1.94),memory and executive function in therapy group lowered obviously.There was statistical difference (P＜ 0.05 or P＜ 0.01 ).Compared with before CAS,MMSE scores of 1 month (27.17±2.15),6 months (27.17 ±2.15),12 months (28.15±1.98) after CAS,memory and executive function in therapy group were all better obviously.There was statistical difference (P＜0.05 or P＜0.01).ConclusionIn acute stage of patients with LI (with in 1 week),most cognitive impairment was severe. Most cognition disorders was improved to normal level 12 months after CAS.The mechanism may be associated with the improvement of chronic cerebral insufficiency.