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• Calibrate whole body segments with only three predefined postures using orientation measurements. • Segmentation procedure segments calibration postures automatically. • Intrinsic average algorithm significantly reduce effect of body shaking. • Iterative hand-eye calibration algorithm directly determine the transformation matrix. This study aims to propose a novel sensor to segment calibration method for magnetic and inertial measurement unit (M-IMU) based human motion capture systems. The calibration procedure is designed to be easily performed by the subject, which can calibrate the whole body segments with only three predefined postures. Firstly, the orientation measurements for each body segment are collected during calibration process. Secondly, a segmentation procedure based on a moving average window algorithm and double-threshold technique is introduced to recognize and segment the calibration postures automatically. To suppress the shaking during the calibration process, an intrinsic average algorithm is presented to smooth the orientation measurements. Finally, an iteration hand-eye calibration approach is utilized to retrieve the sensor to segment calibration matrices. The error due to the ungraded calibration postures can be reduced observably, and we also define an indicator to evaluate the quality of the performed calibration postures. The calibration procedure has been validated on several subjects using a wearable M-IMU based motion capture system. Experiment results show that the proposed calibration method can suppress the shaking disturbances effectively, and has good repeatability. [ABSTRACT FROM AUTHOR]

Recently, a genome-wide association study of a Caucasian population identified variant rs3794087 in intron 4 of the SLC1A2 gene, which may increase the risk of essential tremor (ET). Considering the overlap in the pathological features and clinical manifestations of ET and Parkinson's disease (PD), several studies on the association between rs3794087 and PD were later performed in other populations. However, results about the role of SLC1A2 rs3794087 in PD were inconsistent. We thus performed a case-control study in a Chinese Han population to investigate the role of SLC1A2 rs3794087 in Chinese patients with PD. Overall, 1096 subjects comprising 546 patients with PD and 550 control subjects were genotyped. A meta-analysis of the data obtained from the current sample-set and those available from prior studies was performed. Taking all patients and controls into consideration, rs3794087 was found to have no significant effect on PD susceptibility in analyses using allelic ( p  = .486), genotype ( p  = .736), additive ( p  = .764), dominant ( p  = .438), and recessive ( p  = .878) genetic models. The results of the meta-analysis were in agreement with our findings (the pooled OR was 0.97 and 95% CI = 0.85, 1.10). Our study suggested that rs3794087 does not lead to an increased risk of PD in the Chinese Han population. The role of single nucleotide polymorphism rs3794087 in the development of PD remains to be further studied. [ABSTRACT FROM AUTHOR]

Abstract: The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. In 2010, four missense mutations in the prodynorphin (PDYN) gene were found in two families and two sporadic cases of SCA type 23 (SCA23) from the Netherlands. In addition, one missense mutation in PDYN was also found in one sporadic SCA23 case in America in 2012. To date, there have been no reports of PDYN gene mutations in mainland China. To investigate the frequency of SCA23 among the Chinese Han population, we performed polymerase chain reaction (PCR) and DNA direct sequencing of the PDYN gene in 305 unrelated ataxia patients. Although no SCA23 mutation was identified, one novel single nucleotide polymorphism (c.255G>A, p.Lys85Lys) in exon 4 of the PDYN gene was found. This suggests that SCA23 is a rare form of dominant ataxia in the Chinese Han population. [Copyright &y& Elsevier]

• The impact of people's subjective perception on their acceptance of high-level autonomous vehicle (AV) were analyzed. • People concerned high-level AVs' usefulness for increasing traveling efficiency at most. • People's using attitude, perceived benefit and safety, and trust greatly affected their acceptance of high-level AVs. • Male and female have different preferences for the AVs on the self-driving function and attitude to social influence. The automated vehicles (AV) is an important driving force for intelligent transportation technologies. Previous studies have found significant influence of people's subjective perception on their acceptance of AVs, but how people's perception impose influence their acceptance has not reached consensus. This study reviewed published papers addressing this topic to provide some insights of this issue. The preferred reporting items for systematic reviews and meta-analysis method (PRISMA) is used to select qualified papers across major databases. The impacts of nine subjective perception factors on public acceptance of AVs revealed by the papers are reanalysed following a rigorous meta-analytic process. The results show that people's perceived usefulness of AVs and attitude toward using strongly affect their acceptance of AVs. The increase of perceived ease of use could slightly increase the acceptance. Lower perceived risk often leads to higher acceptance of AVs. Social influence hardly affects people accepting AVs. Males and females had different degrees of trust, perceived benefit and effort expectancy on AVs. Peoples from different countries perceived benefits and effort expectancy of AVs in their own ways. Based on paper reviewing results, some suggestions for survey design, data collection and analysis are proposed for future studies. [ABSTRACT FROM AUTHOR]

• Our study reported a family with limb-girdle myasthenia with tubular aggregates. • The study detected novel compound heterozygous mutations in GFPT1. • GFPT1 should be considered in transient muscle weakness and fatigue patients. Limb-girdle myasthenia with tubular aggregates, a subtype of congenital myasthenic syndrome, is an extremely rare autosomal recessive genetic disease characterized by prominent limb-girdle weakness and good response to acetylcholinesterase inhibitor therapy. Herein, we reported two novel mutations of GFPT1 gene in a Chinese pedigree. Two siblings presented with fatigue, weakness of limb-girdle and decrement of the muscle action potential with repetitive nerve stimulation. Thus, myasthenia gravis was initially suspected, but anti-AChR antibodies were negative. Two novel missense mutations (p.Lys154Asn and p.Asn363Ser) in GFPT1 were identified through genetic testing conducted on 167 well-established genes associated with muscular diseases by targeted high throughput sequencing. Both mutations have not been recorded in the dsSNP database, Exome Aggregation Consortium database and 1000 Genomes Project database. The mutation sites were co-segregated with the phenotype and conserved between the different species. The mutations were not found in the 200 unrelated normal controls. Muscle biopsies revealed tubular aggregates, in accordance with previous reports with GFPT1 mutations. Subsequently, dramatic improvement in strength occurred following anti-cholinesterase therapy. Our study will be helpful for the diagnosis and treatment for Limb-girdle myasthenia with tubular aggregates. [ABSTRACT FROM AUTHOR]

Introduction: A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population. Several other studies about the association between SMPD1 variants and PD were performed afterward in other populations. However, the results on the role of SMPD1 mutations for PD have been conflicting. This study aimed to investigate the role of mutations in SMPD1 in Chinese PD patients.Methods: We sequenced all the exons of this gene in 512 Chinese Han cases with sporadic Parkinson's disease and 495 matched healthy control subjects.Results: We identified Leu-Ala (Val) repeat variants and six known single nucleotide variants (p.A36V, p.D212D, p.P332R, p.G508R, p.P533L, p.T544T) in SMPD1 in both patients and normal controls. Case-control analysis showed the association between Leu-Ala (Val) repeat variants in SMPD1and Chinese Han patients with PD (χ2 = 8.771, p = 0.012), and the allele with less than seven LeuAla (Val) repeats may increase the risk of PD (p = 0.010).Conclusion: We identified association between Leu-Ala (Val) repeat variants in SMPD1 and Chinese Han patients with sporadic Parkinson's disease. Our results provide further support for the role of lysosomal pathways in PD development. [ABSTRACT FROM AUTHOR]

We screened the RFC1 intronic AAGGG repeat expansions in late-onset ataxia cases, MSA patients and controls. The data suggested that no biallelic repeat expansion carrier was found in our cohort and the heterozygous intronic AAGGG repeat expansions may not lead to an increased risk of late-onset ataxia or MSA. [ABSTRACT FROM AUTHOR]

Recently, mutations of DNAJC12 gene were reported to be associated with early-onset parkinsonism, progressive neurodevelopmental delay, and dystonia in several unrelated pedigrees. This study aimed to evaluate DNAJC12 coding mutations in sporadic Chinese Han patients with Parkinson's disease (PD) and test whether an age-of-onset effect exists. Seven hundred two Chinese Han sporadic PD patients, including 181 early-onset PD and 521 late-onset PD, and 728 healthy controls were recruited. No documented disease-causing mutation of DNAJC12 was identified, but we found 7 single-nucleotide polymorphisms. Allele frequencies did not differ between all the PD patients and controls or between any 2 subgroups for all these single-nucleotide polymorphisms. Our study suggests that DNAJC12 mutation is not a risk factor of PD in Chinese Han population, and no age-of-onset effect was verified. [ABSTRACT FROM AUTHOR]

Recently, a variant p.R160W in the MC1R gene was identified that increased the risk of Parkinson's disease (PD) in Spanish population. To explore whether the MC1R gene variants are associated with sporadic PD in Chinese population, we performed a case-control comparison study for comprehensive MC1R variant screening in 510 Chinese Han patients and 495 healthy controls as ethnically matched controls. We identify 5 nonsynonymous variants, including rs34090186 (p.R67Q), rs2228479 (p.V92M), rs33932559 (p.I120T), rs885479 (p.R163Q), and rs372152373 (p.R223W). However, variants mentioned previously did not show association with PD. Our results suggest that variants in MC1R do not play a major role in PD in the Chinese population. [ABSTRACT FROM AUTHOR]

Mutations in CHCHD2 gene have been reported in autosomal dominant Parkinson's disease (ADPD). However, there is still lack of evidence supported CHCHD2 mutations lead to ADPD in other populations. We performed whole exome sequencing, positron emission tomography (PET), and haplotype analyses in an ADPD pedigree and then comprehensively screened for CHCHD2 gene mutations in additional 18 familial parkinsonism pedigrees, 364 sporadic PD patients, and 384 healthy controls to assess the frequencies of known and novel rare nonsynonymous CHCHD2 mutations. We identified a heterozygous variant (c.182C>T; p.Thr61Ile) in the CHCHD2 gene in the ADPD pedigree. PET revealed a significant reduction in dopamine transporter binding in the putamen and caudate nucleus of the proband, similar to idiopathic PD. The single nucleotide variant 5C>T (Pro2Leu) in CHCHD2 was confirmed to have a significantly higher frequency among sporadic PD patients than controls. Our results confirm that ADPD can be caused by CHCHD2 mutations and show that the Pro2Leu variant in CHCHD2 may be a risk factor for sporadic PD in Chinese populations. [ABSTRACT FROM AUTHOR]