Resting state functional magnetic resonance imaging changes in spasmodic torticollis patients based on fractional amplitude of low frequency fluctuation / 中华神经科杂志

Objective To observe the differences of cerebral activation pattern with resting state functional magnetic resonance imaging (rs-fMRI) between patients with spasmodic torticollis (ST) and healthy controls,thus to investigate the pathogenesis of ST.Methods Nineteen ST patients and 21 age,sex and education-matched healthy controls,recruited from the Department of Neurology,First Affiliated Hospital of Guangxi Medical University between November 2012 and January 2016,were included in this study.rs-fMRI and factional amplitude of low frequency fluctuation (fALFF) were used to obtain differences between patients with ST and healthy controls,and correlative analysis was made on fALFF values of abnormal brain regions and ST patients' symptom severity (Tsui scores).Results Compared with healthy controls,patients with ST had significantly increased fALFF in the left cerebellum and significantly decreased fALFF in the left posterior cingulate cortex/precuneus,right posterior cingulate cortex/precuneus,left middle temporal gyrus,right angular gyrus,left post-central gyrus,right supplementary motor area (t =-5.714-5.920,P ＜0.01),and abnormal brain regions' fALFF values had no correlation with patients' age of onset,disease course,symptom severity (P ＞ 0.05).Conclusion Abnormal sensorimotor area,default mode network and cerebellum dysfunction may play a role in the pathophysiology of ST.

The analysis of polymorphism on PINK1 gene of exon 5 in 50 patients with Parkinson disease / 重庆医学

Objective To study polymorphism of phosphatase and tensinhomologue (PTEN)-induced kinase 1(PINK1) gene of exon 5 in Parkinson patients who located in Guangxi ,and its relationship with Parkinson disease (PD) .Methods PCR ,single strand conformation polymorphism (SSCP) and sequencing analyze were conducted to analyze the PINK 1 gene′s exon 5 polymorphism in 28 cases of early-onset PD patients ,22 cases of late-onset PD patients(early-onset PD patients + late-onset PD patients = PD group) and 55 of control group .Results The intronic intervening sequence 5-5G-A (IVS5-5G-A ) polymorphism and G12164A polymer-phism which were located on PINK1 gene of exon 5 were chain relation .The G/A ,A /A genotype frequency was significantly higher in PD group (42 .0% ) than that in control group (23 .6% ) (χ2 = 4 .034 ,P= 0 .045) .The frequency was also significantly higher in late-onset PD patients (45 .5% )than that of 38 cases who were older than 50 years old in control group(21 .1% )(χ2 = 3 .951 ,P=0 .047) .There were no significant differences in alleles .Conclusion This research suggests that chain relation polymerphism at IVS5-5G-A and G12164A in PINK1 gene may be a susceptible factor for PD patients in Guangxi .

Study of mitochondrial DNA point mutations at positions 3243, 8993 in hereditary ataxia / 临床神经病学杂志

Objective To study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia (HA). Methods Polymerase chain reaction (PCR), restriction fragment length polymophism (RFLP) were performed to search A3243G, T8993G or T8993C point mutations in the amplified mitochondrial DNA of extract human perpheral white blood cells of 26 patients with HA and 35 normal controls. Results No point mutations of mitochondrial DNA A3243G, T8993G or T8993C were found in HA group and control group.Conclusion mitochondrial DNA A3243G, T8993G and T8993C mutations are not likely to be genetic factors of hereditary ataxia.