Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. The clinical manifestation of NIID varies widely, and both familial and sporadic cases have been reported. Here we have performed genetic linkage analysis and mapped the disease locus to 1p13.3-q23.1; however, whole-exome sequencing revealed no potential disease-causing mutations. We then performed long-read genome sequencing and identified a large GGC repeat expansion within human-specific NOTCH2NLC. Expanded GGC repeats as the cause of NIID was further confirmed in an additional three NIID-affected families as well as five sporadic NIID-affected case subjects. Moreover, given the clinical heterogeneity of NIID, we examined the size of the GGC repeat among 456 families with a variety of neurological conditions with the known pathogenic genes excluded. Surprisingly, GGC repeat expansion was observed in two Alzheimer disease (AD)-affected families and three parkinsonism-affected families, implicating that the GGC repeat expansions in NOTCH2NLC could also contribute to the pathogenesis of both AD and PD. Therefore, we suggest defining a term NIID-related disorders (NIIDRD), which will include NIID and other related neurodegenerative diseases caused by the expanded GGC repeat within human-specific NOTCH2NLC.

Purpose – In response to food scares related to high levels of agro-chemical residues sometimes found on foods, consumers in China increasingly demand for organic foods. As little is known on consumer perceptions and attitudes toward organic food products, the purpose of this paper is to gain insight into the purchase of organic food products by consumers and to explore the main factors driving this process. Design/methodology/approach – Mixed (quantitative and qualitative) market survey approaches were used to provide a potentially deeper insight into consumer’s perspective and could help get a better picture of the complex factors involved. Findings – The main trigger for purchasing organic food products is that consumers expect them to be healthier and safer. The respondents who have bought organic food products tend to have a higher education level and disposable incomes, be families with children and be older than those who have not bought them. The main barriers to increasing the market share of organic food products are the consumers’ lack of knowledge, the relatively high price premium and the lack of availability of organic food products. Informing consumers about unique characteristics of organic production methods, the decline in the prices of and increasing the availability of organic food products to its customers might be a promising strategy to develop the market for organic food products. Originality/value – This paper provides a unique insight into buying behavior and attitudes of organic consumers in China. The results of the research could provide information for the organic food industry to expand its market and improve its profitability and reliability.

Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to now, only a few genes/loci have been identified, but these genes have not been replicated in other essential tremor families or cohorts. Here we report a genetic study in a cohort of 197 Chinese pedigrees clinically diagnosed with essential tremor. Using a comprehensive strategy combining linkage analysis, whole-exome sequencing, long-read whole-genome sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal GGC repeat expansion in the 5′ region of the NOTCH2NLC gene that co-segregated with disease in 11 essential tremor families (5.58%) from our cohort. Clinically, probands that had an abnormal GGC repeat expansion were found to have more severe tremor phenotypes, lower activities of daily living ability. Obvious genetic anticipation was also detected in these 11 essential tremor-positive families. These results indicate that abnormal GGC repeat expansion in the 5′ region of NOTCH2NLC gene is associated with essential tremor, and provide strong evidence that essential tremor is a family of diseases with high clinical and genetic heterogeneities.

The main focus of this study was to evaluate the effects of soil moisture and temperature on temporal variation of N 2 O, CO 2 and CH 4 soil-atmosphere exchange at a primary seasonal tropical rainforest (PF) site in Southwest China and to compare these fluxes with fluxes from a secondary forest (SF) and a rubber plantation (RP) site. Agroforestry systems, such as rubber plantations, are increasingly replacing primary and secondary forest systems in tropical Southwest China and thus effect the N 2 O emission in these regions on a landscape level. The mean N 2 O emission at site PF was 6.0 ± 0.1 SE lg N m -2 h -1 . Fluxes of N 2 O increased from <5 lg N m -2 h -1 during dry season conditions to up to 24.5 lg N m -2 h -1 with rewetting of the soil by the onset of first rainfall events. Comparable fluxes of N 2 O were measured in the SF and RP sites, where mean N 2 O emissions were 7.3 ± 0.7 SE lg N m -2 h -1 and 4.1 ± 0.5 SE lg N m -2 h -1 , respectively. The dependency of N 2 O fluxes on soil moisture levels was demonstrated in a watering experiment, however, artificial rainfall only influenced the timing of N 2 O emission peaks, not the total amount of N 2 O emitted. For all sites, significant positive correlations existed between N 2 O emissions and both soil moisture and soil temperature. Mean CH 4 uptake rates were highest at the PF site (-29.5 ± 0.3 SE lg C m -2 h -1 ), slightly lower at the SF site (-25.6 ± 1.3 SE lg C m -2 h -1 ) and lowest for the RP site (-5.7 ± 0.5 SE lg C m -2 h -1 ). At all sites, CH 4 uptake rates were negatively correlated with soil moisture, which was also reflected in the lower uptake rates measured in the watering experiment. In contrast to N 2 O emissions, CH 4 uptake did not significantly correlate with soil temperature at the SF and RP sites, and only weakly correlated at the PF site. Over the 2 month measurement period, CO 2 emissions at the PF site increased significantly from 50 mg C m -2 h -1 up to 100 mg C m -2 h -1 (mean value 68.8 ± 0.8 SE mg C m -2 h -1 ), whereas CO 2 emissions at the SF and RP site where quite stable and varied only slightly around mean values of 38.0 ± 1.8 SE mg C m -2 h -1 (SF) and 34.9 ± 1.1 SE mg C m -2 h -1 (RP). content could be demonstrated for all sites, thus, the watering experiment revealed significantly higher CO 2 emissions as compared to control chambers. Correlation of CO 2 emissions with soil temperature was significant at the PF site, but weak at the SF and not evident at the RP site. Even though we demonstrated that N and C trace gas fluxes significantly varied on subdaily and daily scales, weekly measurements would be sufficient if only the sink/ source strength of non-managed tropical forest sites needs to be identified.