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Functional and genetic studies have identified association between several Zinc finger (ZNF) proteins and Parkinson's disease (PD). However, most of them were still awaiting further replications, especially in the Asian population. Here, we systematically selected PD-relevant ZNF genes and analyzed the genetic associations between these ZNFs and PD in a large Chinese PD cohort. We identified rare variants (minor allele frequency < 0.01) in 743 unrelated patients with early-onset PD (EOPD, age at onset < 50 years) using whole exome sequencing and evaluated the association between rare variants and EOPD at both allele and gene levels. Totally 91 rare variants were identified in ZNF746, ZNF646, ZNF184, ZNF165, ZND219, and GLIS1. One variant p.R373H in ZNF219 and two variants p.G161D and p.R158H in ZNF746 were significantly associated with EOPD, and gene-based burden analysis showed enrichment of rare variants of ZNF746 in EOPD. Our findings build up the connection between ZNF746 and PD from a genetic perspective for the first time, supplement current understanding for the genetic role of ZNFs in EOPD, and broaden the mutation spectrum in PD. [ABSTRACT FROM AUTHOR]

Typical clinical manifestations of MNGIE include severe gastrointestinal dysmotility, cachexia, ptosis and external ophthalmoplegia, sensorimotor neuropathy, and leukoencephalopathy. However, whether multiple intracranial hemorrhages are primary in MNGIE or secondary to other unclear causes should be elucidated by the longitudinal brain imaging study in a large MNGIE cohort. [Extracted from the article]

Recent genetic studies clearly indicate that variants in several lysosomal genes act as risk factors for idiopathic Parkinson's disease (PD). Variants in the co-activator of glucocerebrosidase gene (GBA) and the four active saposins (Sap A-D) which are encoded by the prosaposin gene (PSAP) are of particular interest; however, their genetic roles in PD are unknown. Whole-exome sequencing and Sanger sequencing were used to assess the genetic etiology of 400 autosomal dominant inherited PD (ADPD) and 300 sporadic PD (SPD) patients. Variants from public databases, including Genome Aggregation Database-East Asian (GnomAD_EAS) and Chinese Millionome Database (CMDB), were used as control groups. Burden analysis based on gene and domains level were performed to investigate the role of rare PSAP variants in PD. Six rare and likely pathogenic variants, located in the Sap A-D domains, were identified and accounted for 0.75% (3/400) of ADPD and 1.33% (4/300) of SPD in the Chinese population. Based on the gene or domain, burden analysis showed that damaging missense variants in SapC had statistical significance on the risk of developing PD. Interestingly, rs4747203, an intronic variant potentially linked to PSAP expression, was associated with reduced risk for PD (p = 8.6e−7 in GnomAD EAS and p = 0.002 in Chinese). Clinically, patients carrying the likely pathogenic variants presented typical PD motor symptoms and responded well to levodopa treatment. Six out of seven patients carrying the likely pathogenic variants of PSAP presented slow disease progression, and none of the patients developed cognitive impairment. Our study expands the spectrum of mutations associated with the risk of developing PD and enhances the understanding of the relationship of the clinical phenotype of PD with PSAP variants. [ABSTRACT FROM AUTHOR]

Plagiarism is often considered as cheating, dishonesty, copying, or moral failing in writing because it is the act of stealing others' language and ideas without proper citation or paraphrasing. However, this idea is not universally shared because people from different cultural backgrounds are likely to conceptualize plagiarism differently. To fill the gap in teachers' perceptions and investigate students' actual plagiaristic behavior, this study aims to detect the extent of plagiarism in students' English summary writing by adopting plagiarism-detection software, Turnitin. The present study draws on both quantitative and qualitative data to investigate whether discrepancy exists between students' perceptions of plagiarism and their actual plagiaristic behavior, and whether student behavior changes after their awareness training on plagiarism. The results of this study show that student plagiaristic behavior has changed and the awareness of adoption of plagiarism-detection software significantly has reduced the instances of textual plagiarism. It is thus noted that students who were aware that a plagiarism detection system was in use had lower percentages of plagiarism. However, no obvious relationship is observed between plagiarism awareness and the students' actual plagiaristic behavior. The implications of these findings on pedagogical practice and future research are discussed and presented. [ABSTRACT FROM AUTHOR]

Continual discoveries of new genes and unraveling the genetic etiology in amyotrophic lateral sclerosis (ALS) have provided greater insight into the underlying pathogenesis in motor neuron degeneration, as well as facilitating the disease modeling and the testing of targeted therapeutics. While, the genetic etiology accounted for two-thirds of FALS and approximately 11% of SALS in Caucasians. However, the contributions of these causative genes to ALS vary among different populations. Furthermore, the prominent difference between Chinese population and other ethnics remains a source of ongoing debate. We systemically reviewed genetics literature of Chinese ALS populations and updated the mutation frequencies of the main ALS-implicated genes aiming to determine the genetic features of ALS in Chinese population. We also reviewed the associations between ALS-implicated single nucleotide polymorphisms (SNPs) and the risk of ALS in Chinese population. A total of 116 studies were included in this analysis (86 gene mutation study articles and 30 SNPs study articles). The results showed that the overall gene mutation rates of ALS-related causative genes were 55.0% in familial ALS (FALS) and 11.7% in sporadic ALS (SALS) in Chinese population. In Chinese FALS, the highest mutation frequency was found in SOD1 gene (25.6%), followed by FUS (5.8%), TARDBP (5.8%), DCTN1 (3.6%) and C9orf72 (3.5%). In Chinese SALS, the highest mutation frequency was also identified in SOD1 gene (1.6%), followed by ANXA11 (1.4%), FUS (1.3%), SQSTM1 (1.0%), OPTN (0.9%) and CCNF (0.8%). The associations between several SNPs and risk of ALS were also reported in Chinese population. The genetic features of ALS in Chinese population are significantly different from those in Caucasian population, indicating an association between genetic susceptibility and origin of population. Further explorations are required to understand the gene complexity of ALS, including the contribution of most minor genes and the molecular mechanisms in ALS pathologies. [ABSTRACT FROM AUTHOR]

Introduction: Although several studies suggested that sleep-related breathing disorder (SRBD) is a frequent symptom of multiple system atrophy (MSA), whether SRBD has influence on the motor and non-motor symptoms of MSA is unknown.Methods: A total of 40 MSA patients and 40 healthy volunteers (HVs) underwent video-polysomnography (PSG) in the current study. All the MSA individuals were assessed using the Epworth Sleepiness Scale (ESS), Unified Multiple-System Atrophy Rating Scale (UMSARS), Hamilton Depression Scale (HAMD), Hamilton Anxiety Scale, Frontal assessment battery (FAB), Parkinson’s Disease Questionnaire-39 (PDQ-39), and the Montreal Cognitive Assessment (MoCA).Results: We found apnea-hypopnea index (AHI) of the MSA patients recorded by PSG was 16.4 ± 20.2. SRBD was found in 65% of the MSA patients (26/40), which was significantly higher than HVs (8/40, 20%) (p = 0.0001). Compared to the MSA patients without SRBD, MSA individuals with SRBD showed higher total UMSARS, UMSARS-II, FAB, and HAMD scores, more frequent occurrence of excessive daytime sleepiness, hypopneas, longer mean times for hypopneas, and obstructive sleep apnea (OSA), as well as longer time for OSA. This study suggested that SRBD is frequently seen in MSA patients.Conclusion: MSA individuals with SRBD are prone to be severe motor deficits, depression, frontal lobe dysfunction, and excessive daytime sleepiness. [ABSTRACT FROM AUTHOR]

The ability to read English efficiently and effectively is important for medical students because they have to read a lot of medical texts published in English. This is challenging especially for non-native speakers. This study measures Taiwanese medical students’ self-perceived use of metacognitive strategies while reading printed texts and hypertexts, and also the potential impact of hypertext on English reading comprehension. The results of the study showed that the strategies used the most by the printed text and hypertext groups were problem-solving strategies, followed by global strategies; whereas support strategies were least used. Learners in the printed text group reported more strategy use of reading slowly and using background information than the learners in the hypertext environment. A significant reading improvement and positive correlations were found between the strategies of guessing content, checking guesses, and guessing unknown words on hypertext comprehension enhancement. Such results suggested that the majority of students frequently used the three specific strategies and the degree of such strategy uses was reliably predicted by their comprehension scores. Based on the investigation results, limitations and future research are discussed and presented. [ABSTRACT FROM AUTHOR]

Large-scale meta-analyses of genome-wide association studies have identified several loci linked to sporadic Parkinson’s disease (PD). However, the roles of some important loci, such as HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896, have not been clarified in Chinese populations. Accumulating evidence indicates that some common clinicopathological characteristics are shared by different neurodegenerative diseases. Consequently, we conducted a large sample study to investigate associations between these variants and PD, multiple system atrophy (MSA), and amyotrophic lateral sclerosis (ALS) in Chinese populations. A total of 2417 patients, including 1237 PD, 850 SALS, and 330 MSA patients, along with 836 healthy controls (HCs) were examined in this study. All patients were genotyped for SNPs using the Sequenom iPLEX assay. No significant differences were found in the genotype and allele frequency distributions between the three neurodegenerative diseases and three candidate variants investigated. In subgroup analysis, compared with PD patients with initial symptom of tremor and HCs, the minor allele frequency of NMD3 rs34016896 in PD patients with initial symptoms of rigidity/bradykinesia was significantly lower. In addition, female patients carrying the rs34016896 minor allele had an increased risk of developing MSA (OR 1.25, 95% CI [1.09-1.43]), and ALS patients carrying the Ile105 polymorphism on the Thr105Ile allele in the HNMT gene exhibited a trend toward a delay in symptom onset of 3.010 ± 1.629 years. Our results indicate that the presence of the rs34016896 allele in the NMD3 gene may contribute to the development of synucleinopathies and that the Thr105Ile allele in the HNMT gene could potentially be an important therapeutic target for the treatment of ALS. [ABSTRACT FROM AUTHOR]

Mutations in the gene encoding the transmembrane protein 230 (TMEM230) have been reported in patients with familial, autosomal dominant inherited Parkinson’s disease (ADPD). The aim of the present study was to explore the role and the prevalence of TMEM230 mutations in Chinese patients with ADPD. A cohort of 120 patients with ADPD and 650 healthy controls (HCs) from the Department of Neurology, West China Hospital of Sichuan University was screened. The entire coding exons of TREM230 in all the patients, as well as exon 5 of this gene in the 650 HCs, were directly sequenced with the Sanger sequencing approach. Novel identified mutations or variants of Parkinson’s disease were tested in all HCs in the corresponding chromosomal regions. Two novel variants of the TMEM230 gene were identified. The c.46G>T [p. Gly16Trp] variant in exon 1 was identified in a male PD patient, while a heterozygous frameshift variant, c.429delT [p. Val143ValfsX4], in exon 5 was found in an HC. However, the most commonly reported mutation, p.*184ProGlyext*5, was not detected in either the patients or control subjects in this study. Our findings suggested that TMEM230 mutations are very rare in the ADPD Han Chinese population. Further evaluation of genetic data from a larger sample population is required to understand the genetic role of TMEM230 in the etiology of PD. [ABSTRACT FROM AUTHOR]

In the English as a foreign language (EFL) writing context, most of the research studies on the feedback process are conducted in a face-to-face context and few research studies have been conducted to investigate what actually happens in online feedback conditions. Thus, this study aimed to compare 44 EFL university students' experience of employing asynchronous peer feedback (APF) and synchronous corrective feedback (SCF) and whether the utilization of these two modes affected EFL students' writing on the aspect of syntactic complexity. The major findings suggested that most participants accepted this e-learning revision approach and received satisfactory results via using APF and SCF modes. The feedback that occurred in APF was potentially more usable than that in SCF in writing more sentences. It is assumed that as students added more words, they increased their writing scores after using APF. Although learners generally accepted both online feedback modes, the interview results revealed some of the reasons for learners' preference for the APF over the SCF mode. Finally, the implications of these findings for future research are discussed and presented. [ABSTRACT FROM AUTHOR]

Mutations in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene ( CHCHD10), involved in mitochondrial function, have recently been reported as a causative gene of amyotrophic lateral sclerosis (ALS). The aim of this study was to obtain the mutation prevalence of CHCHD10 and the phenotypes with mutations in Chinese ALS patients. A cohort of 499 ALS patients including 487 sporadic ALS (SALS) and 12 familial ALS (FALS), from the Department of Neurology, West China Hospital of Sichuan University, were screened for mutations of all exons of the CHCHD10 gene by Sanger sequencing. Novel candidate mutations or variants were confirmed by polymerase chain reaction-restriction fragment length polymorphism in 466 healthy individuals. All patients identified with mutations of CHCHD10 gene were screened for mutations of the common ALS causative genes including C9orf72, SOD1, TARDBP, FUS, PFN1, and SQSTM1. Three heterozygous variants, including two missense mutations (c.275A > G (p.Y92C) and c.306G > C (p.Q102H)) and a synonymous change c.306G > A (p.Q102Q), were found in exon 3 of CHCHD10 in three alive SALS individuals (with the longest disease duration of 8.6 years), all of which were not detected in healthy controls. No mutation in CHCHD10 was identified in FALS patients. No mutation was found in the aforementioned common ALS causative genes in the patients who carried CHCHD10 mutations. The mutation frequency of CHCHD10 (0.4 %, 2/487) in a Chinese SALS population suggests CHCHD10 gene mutation appears to be an uncommon cause of ALS in Chinese populations. CHCHD10 mutations are associated with a slow progression and long disease duration. [ABSTRACT FROM AUTHOR]

Purpose: Resting tremor is one of the cardinal motor features of Parkinson's disease (PD). Several lines of evidence suggest resting tremor may have different underlying pathophysiological processes from those of bradykinesia and rigidity. The current study aims to identify white matter microstructural abnormalities associated with resting tremor in PD. Methods: We recruited 60 patients with PD (30 with tremor-dominant PD and 30 with nontremor-dominant PD) and 26 normal controls. All participants underwent clinical assessment and diffusion tensor MRI. We used tract-based spatial statistics to investigate white matter integrity across the entire white matter tract skeleton. Results: Compared with both healthy controls and the nontremor-dominant PD patients, the tremor-dominant PD patients were characterized by increased mean diffusivity (MD) and axial diffusivity (AD) along multiple white matter tracts, mainly involving the cerebello-thalamo-cortical (CTC) pathway. The mean AD value in clusters with significant difference was correlated with resting tremor score in the tremor-dominant PD patients. There was no significant difference between the nontremor-dominant PD patients and controls. Conclusion: Our results support the notion that resting tremor in PD is a distinct condition in which significant microstructural white matter changes exist and provide evidence for the involvement of the CTC in tremor genesis of PD. [ABSTRACT FROM AUTHOR]

The hexanucleotide repeat expansions in the C9ORF72 gene has been found in some patients with atypical Parkinsonism. A number of hexanucleotide repeats were examined in a Chinese population, including 619 patients with Parkinson's disease (PD), 381 patients with multiple system atrophy (MSA), and 632 healthy controls. We did not identify any pathogenic repeat expansions in either patients or controls, and any associations between repeats number and disease risk. C9ORF72 expansions are not involved the wider spectrum of Parkinsonism. [ABSTRACT FROM AUTHOR]

To shed more light on the contribution of brain structural changes to PD-related depressive symptoms, this study conducted cortical thickness analysis in drug-naive PD patients with and without depression. We recruited 27 PD patients with depression (PD-Dep), 29 PD patients without depression (PD-NDep), and 56 normal controls. T1 weighted magnetic resonance imaging and surface-based morphometric analyses were performed to examine morphometric abnormalities in PD patients and their relationship to depression. We found decreased thickness in the left prefrontal cortex in PD-Dep group compared with PD-NDep group. No significant difference was found between PD patients and controls. In addition, we found there is a trend of inverse correlation between the structural changes and the score of depressive symptom in depressed PD patients. This study demonstrates that cortical thinning in prefrontal area in drug-naive PD patients with depression and highlights the critical role of prefrontal region in the depression associated with PD. [ABSTRACT FROM AUTHOR]

Although rs75932628 in triggering receptor expressed on myeloid cells 2 (TREM2) was shown to increase the risk for Alzheimer's disease, there is no agreement on the association between this variant and the risk for Parkinson's disease (PD). Considering the overlapping of clinical manifestation and pathologic characteristics of PD and multiple system atrophy (MSA), we conducted a large-sample study to investigate the associations between this variant and these two neurodegenerative diseases in a Chinese population. A total of 1216 PD, 406 MSA patients, and 869 healthy controls were included. All cases were genotyped for the Single Nucleotide Polymorphisms (SNP) using Sequenom iPLEX Assay technology. The rs75932628-T variant of the TREM2 gene was not identified in PD patients and controls. The genotype frequency of rs75932628-T SNP in MSA patients was 0.25% (1/406). However, no significant correlation was identified between this variant and the risk for MSA. TREM2 rs75932628 is unlikely to play a major role in the pathogenesis of these neurodegenerative diseases. Our findings argue against a generalized immune dysfunction triggered by the variant in the TREM2 gene. [ABSTRACT FROM AUTHOR]

The purpose of this study is to investigate whether the topological organization of whole-brain functional network is disrupted in patients with Parkinson's disease (PD). We employed resting-state functional MRI (R-fMRI) and graph theory to investigate the topological organization of the functional connectome in 47 early-stage drug-naïve PD patients and 47 healthy control subjects. Correlations between network properties and clinical variables were tested. Both the PD and control groups showed small-world architecture in brain functional networks. However, the PD patients had lower clustering coefficient and local efficiency relative to control subjects, indicating disrupted topologic organization and a shift toward randomization in their functional brain network. At node and connection level, reduced node centralities and connectivity strength were found mainly in temporal-occipital regions and also in sensorimotor regions of PD patients. In PD patients, altered global network properties correlated with cognitive function, while motor impairment was correlated with local connection changes. This study demonstrates a disruption of whole-brain topological organization of the functional brain networks in early-stage drug-naïve PD patients and this disruption might contribute to preclinical changes in cognitive process in these patients. [ABSTRACT FROM AUTHOR]

Despite growing interest, the frequency and characteristics of frontal lobe functional and behavioral deficits in Chinese people with amyotrophic lateral sclerosis (ALS), as well as their impact on the survival of ALS patients, remain unknown. The Chinese version of the frontal assessment battery (FAB) and frontal behavioral inventory (FBI) were used to evaluate 126 sporadic ALS patients and 50 healthy controls. The prevalence of frontal lobe dysfunction was 32.5 %. The most notable impairment domain of the FAB was lexical fluency (30.7 %). The binary logistic regression model revealed that an onset age older than 45 years (OR 5.976, P = 0.002) and a lower educational level (OR 0.858, P = 0.002) were potential determinants of an abnormal FAB. Based on the FBI score, 46.0 % of patients showed varied degrees of frontal behavioral changes. The most common impaired neurobehavioral domains were irritability (25.4 %), logopenia (20.6 %) and apathy (19.0 %). The binary logistic regression model revealed that the ALS Functional Rating Scale-Revised scale score (OR 0.127, P = 0.001) was a potential determinant of an abnormal FBI. Frontal functional impairment and the severity of frontal behavioral changes were not associated with the survival status or the progression of ALS by the cox proportional hazard model and multivariate regression analyses, respectively. Frontal lobe dysfunction and frontal behavioral changes are common in Chinese ALS patients. Frontal lobe dysfunction may be related to the onset age and educational level. The severity of frontal behavioral changes may be associated with the ALSFRS-R. However, the frontal functional impairment and the frontal behavioral changes do not worsen the progression or survival of ALS. [ABSTRACT FROM AUTHOR]

The etiology of amyotrophic lateral sclerosis (ALS) remains unknown, but existing data argue for a role of creatinine in ALS pathophysiology. Our aim is to clarify the correlation between serum creatinine and ALS in Chinese population. A total of 512 sporadic ALS (SALS) patients and 501 age- and gender-matched healthy controls were included. Revised ALS Functional Rating Scale (ALS-FRS-R) was used to assess the motor functional status of SALS patients. Survival analysis was performed using Kaplan-Meier method. Serum creatinine levels were significantly lower in SALS patients than in controls ( p < 0.001). Patients with the second, the third and highest quartiles of creatinine levels had a significantly lower presence of ALS compared to those with the lowest quartile ( p for trend <0.001). However, decreased presence of ALS was not found in the highest quartiles compared with the lowest quartiles in females. Sporadic ALS patients with different site of onset have similar serum creatinine levels, but underweight patients presented lower levels of serum creatinine. Patients with low serum creatinine levels are more likely to have severe motor impairment and low body mass index (BMI) values. This study demonstrates that SALS patients have lower serum creatinine levels than well-matched controls. Higher levels of serum creatinine are less likely to be associated with the presence of ALS in Chinese populations. Low serum creatinine levels may be related to severe motor impairment in SALS patients, after adjusting the confounding factor-BMI. However, serum creatinine has no deleterious impact on survival in ALS. [ABSTRACT FROM AUTHOR]

Patterns of white matter (WM) abnormalities and correlation with clinical features in patients with blepharospasm (BSP) and patients with blepharospasm-oromandibular dystonia (BOM) remain unknown. Using voxel-based analysis, diffusion behaviors of WM including fractional anisotropy (FA), mean diffusivity (MD) and eigenvalues were compared between 20 BSP patients vs. 11 healthy controls (HCs) and 11 patients with BOM vs. 11 HCs. Correlation analyses were performed to assess possible association between diffusion behaviors of significantly different areas and clinical measures. Compared with HCs, BSP patients showed significant FA reductions in the left anterior lobe of cerebellum. Significant increases of MD and radial diffusivity (RD) were detected in right lentiform nucleus and thalamus. Significantly decreased FA in the right precuneus of parietal lobe, increased MD in the right lentiform nucleus and insula, and increased axial diffusivity in the right insula were observed in BOM patients. The FA values in the WM of left cerebellum negatively correlated with disease severity in BSP patients measured by JRS ( r = −0.655, p = 0.002). The FA values in the right parietal WM negatively correlated with disease duration in BOM patients ( r = −0.745, p = 0.008). Both BSP and BOM are related to microstructural abnormalities of WM in the basal ganglia. WM changes outside the basal ganglia may present trait features that are specific for individual dystonia phenotype. The correlation between FA abnormalities and symptom severity suggests that DTI parameters might be of clinical value in assessing and following disability in BSP patients. [ABSTRACT FROM AUTHOR]

The proline-rich transmembrane protein 2 ( PRRT2) gene has been recently identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD), with an insertion mutation c.649_650insC (p.P217fsX7) reported as the most common mutation. However, the pathogenic mechanism of the mutation of PRRT2 remains largely unknown. Resting-state functional magnetic resonance imaging is a promising approach to assess cerebral function and reveals underlying functional changes. Resting-state functional magnetic resonance imaging was performed in 4 Chinese PKD patients with p.P217fsX7 mutation, 6 Chinese PKD patients without the mutation, and 10 healthy control subjects. Voxel-based analysis was used to characterize alterations in the amplitude of low-frequency fluctuation (ALFF). When compared with the healthy control subjects, both groups of PKD patients showed alterations in spontaneous brain activities within cortical–basal ganglia circuitry. Besides, the group of patients with p.P217fsX7 mutation also exhibited increased ALFF in the right postcenral gyrus and right rolandic operculum area, while the alteration of ALFF in group of patients without the mutation additionally involved the middle orbitofrontal cortex. Direct comparative analysis between these two patient groups revealed significantly increased ALFF in the right postcentral gyrus in the group with p.P217fsX7 mutation. Increased spontaneous brain activity in the cortical–basal ganglia circuitry, especially in the motor preparation areas, is a common pathophysiology in PKD. Differences in the spatial patterns of increased ALFF between patients with and those without the mutation might reflect the distinct pathological mechanism resulting from PRRT2 mutation. [ABSTRACT FROM AUTHOR]

Oxidative stress is involved in the pathogenesis of multiple system atrophy (MSA). Uric acid has an antioxidative effect. Our aim is to clarify the correlations between serum uric acid and MSA in Chinese population. A total of 234 patients with probable MSA and 240 age- and gender- matched healthy controls were included in the study. The serum uric acid levels of all the patients and controls were evaluated. The Unified MSA Rating Scale (UMSARS) was used to assess the severity and the mean rate of annualized changes of UMSARS to assess the progression of MSA. The mean age of MSA patients was 58.90 ± 9.00 years and the mean disease duration was 2.60 ± 1.75 years. The serum uric acid levels of MSA patients were significantly lower than that of controls in males ( p = 0.0001). The occurrence of MSA was increased in the lowest uric acid quartiles compared with the highest uric acid quartiles ( p = 0.005). In a gender-specific analysis, increased occurrence was found in the lowest quartiles and second quartiles compared with the highest quartiles in males ( p = 0.001 and p = 0.0001 respectively), but not in females. No correlation was found between the mean rate of annualized changes and serum levels of uric acid, as well as other independent factors, such as age, BMI, gender, subtype (C-type or P-type) and disease duration at the initial visit in 107 followed-up patients. MSA patients have lower levels of serum uric acid than controls. High levels of serum uric acid may be associated with a lower prevalence of MSA in the Chinese population, especially in males. However, serum uric acid does not deteriorate or ameliorate the progression of MSA. [ABSTRACT FROM AUTHOR]

Chorea-acanthocytosis is a rare autosomal recessive disorder. To date, treatment is only symptomatic and supportive. Results from the few reports of chorea-acanthocytosis patients treated with deep brain stimulation (DBS) have been inconsistent. We present case reports for two patients with chorea-acanthocytosis who received DBS treatment and compare the outcomes with results from the literature. Both patients showed the typical clinical features of chorea-acanthocytosis with motor symptoms resistant to medical treatment. Chorea was significantly improved following low-frequency DBS treatment in both patients. However, dystonia was only mildly improved. Four chorea-acanthocytosis patients treated with DBS treatment have been reported in the literature. One patient had improvement with low-frequency DBS stimulation, while another two had improvement with higher-frequency DBS. One patient, however, did not improve with either low-frequency or high-frequency DBS. Bilateral DBS to the GPi can improve chorea and dystonia in some patients with intractable chorea-acanthocytosis. However, selection criteria for the most promising candidates must be defined, and the long-term benefits evaluated in clinical studies. [ABSTRACT FROM AUTHOR]

Although the copper/zinc superoxide dismutase-1 (SOD1) gene has been identified in both familial ALS (FALS) and sporadic ALS (SALS), it has rarely been studied in Chinese patients with ALS, and there are few studies with large samples. This study sought to assess the prevalence of SOD1 mutations in Chinese ALS patients. We screened a cohort of 499 ALS patients (487 SALS and 12 FALS) from the Department of Neurology at the West China Hospital of Sichuan University and analyzed all coding exons of SOD1 by Sanger sequencing. In addition, we reviewed the mutation frequencies of common ALS causative genes in Chinese populations. Eight missense mutations in SOD1 were found in 8 ALS individuals: two novel mutations (p.G73D and p.V120F) and six previously reported mutations. The frequencies of SOD1 mutations were 1.03% (5/487) in SALS and 25% (3/12) in FALS from Southwest China. A literature review indicated that the mutation rates of major ALS causative genes were 53.55% in FALS and 6.29% in SALS. In Chinese SALS and FALS, the highest mutation frequency was in the SOD1 gene. Our results suggest that SOD1 mutation is the most common cause of ALS in Chinese populations and that the mutation spectrum of ALS varies among different ethnic populations. [ABSTRACT FROM AUTHOR]