Clinical and Preclinical Neuroimaging Changes in Spinocerebellar Ataxia Type 12: A Study of Three Chinese Pedigrees.

Background: Spinocerebellar ataxia type 12 (SCA12) is a rare SCA subtype with unclear clinical and imaging features. Also, the radiological changes in prodromal and early stages remain unknown.

Methods: Ten symptomatic and two pre-symptomatic cases from three Chinese pedigrees received clinical assessments and imaging studies including routine magnetic resonance imaging (MRI), diffusion kurtosis imaging (DKI), and positron emission tomography (PET) using 18F-flurodeoxyglucose (FDG) to investigate glucose metabolism in brain and 18F-vesicle monoamine transporter 2 (VMAT2) to inspect the integrity of the dopaminergic neuron.

Three novel mutations in Chinese patients with -related leukoencephalopathy.

Background: -related encephalopathy refers to adult-onset leukodystrophy with neuroaxonal spheroids and pigmented glia (ALSP) due to mutations, which is a rare autosomal dominant white matter disease including two pathological entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). The aim of this study was to identify additional causative mutations in the gene and clarify their pathogenic effects.

Methods: Whole-exome sequencing was conducted for nine Chinese patients diagnosed with possible ALSP based on clinical and neuroimaging findings from March 2014 to June 2020 at Xuanwu Hospital (Beijing, China).

Prevalence of pre-diagnostic symptoms did not differ between LRRK2-related, GBA-related and idiopathic patients with Parkinson's disease.

Introduction: Glucocerebrosidase (GBA) mutations and leucine-rich repeat kinase 2 (LRRK2) variants are the most common genetic risk factors for late-onset Parkinson's disease (PD). In this study, we aimed to investigate the differences in pre-diagnostic symptoms of PD associated with the variants.

Methods: The participants were recruited from 24 centers across China and genotyped for LRRK2 G2385R and R1628P variants and GBA L444P mutation.

Ganoderma lucidum extract ameliorates MPTP-induced parkinsonism and protects dopaminergic neurons from oxidative stress via regulating mitochondrial function, autophagy, and apoptosis.

Neuroprotection targeting mitochondrial dysfunction has been proposed as an important therapeutic strategy for Parkinson's disease. Ganoderma lucidum (GL) has emerged as a novel agent that protects neurons from oxidative stress. However, the detailed mechanisms underlying GL-induced neuroprotection have not been documented.

Primary familial brain calcifications linked with a novel SLC20A2 gene mutation in a Chinese family.

It has been recently reported that mutations in SLC20A2 gene are a major cause of primary familial brain calcifications, a rare neurodegenerative disorder characterized by symmetrical and bilateral intracranial calcification. We conducted a pedigree study by performing next Generation Sequencing in a Chinese family with three generations. Three members in this family developed Parkinsonism in their sixth decade, also, the proband presented with schizophrenia for 40 years.

[Effects of dicyandiamide combined with nitrogen fertilizer on N2O emission and economic benefit in winter wheat and summer maize rotation system].

Aiming at the problems of excessive and unreasonable fertilizer application, lower nitrogen use efficiency, increasing N2O emission from soil and fertilizer in current intensified agricultural productions, a field experiment was conducted to study the effects of dicyandiamide (DCD) combined with nitrogen fertilizer application at different levels, i.e., 150, 225, 300 kg .

Tolerogenic dendritic cells generated by RelB silencing using shRNA prevent acute rejection.

It is well known that adoptive transfer of donor-derived tolerogenic dendritic cells (DCs) helps to induce immune tolerance. RelB, one of NF-κB subunits, is a critical element involved in DC maturation. In the present study, our results showed tolerogenic DCs could be acquired via silencing RelB using small interfering RNA.

Lentiviral-mediated shRNA against RelB induces the generation of tolerogenic dendritic cells.

Objective: Lentiviral-mediated shRNA against RelB was used to produce tolerogenic dendritic cells from murine bone marrow derived dendritic cells (BMDCs).

Method: RelB expression in the BMDCs was silenced by lentivirus carrying RelB shRNA. The apoptosis rate and surface markers of DCs were assessed by flow cytometry.

[Association of HLA-DRB1 and -DPB1 allele polymorphism with multiple sclerosis in Chinese Han population from Southern areas].

Objective: To examine the correlation between multiple sclerosis (MS) in Chinese Southern Han population and the polymorphism of HLA-DRB1 and -DPB1 alleles, and compare it to the reports of Western, Japanese and Northern Chinese populations.

Methods: The HLA-DRB1 and -DPB1 alleles of 26 patients with conventional MS (C-MS), 13 patients with optic-spinal form of MS (OS-MS), and 50 normal controls were determined by sequence-based typing (SBT) method. The frequency of the HLA alleles was compared between the 2 MS subtypes and the MS subtypes and the controls by chi(2) or Fisher exact probability test.

[Mechanism of translocation between chromosomes 4q and 10q in facioscapulohumeral muscular dystrophy].

Objective: To investigate the translocation between chromosomes 4q and 10q and its putative correlation with facioscapulohumeral muscular dystrophy (FSHD).

Methods: Double digestion of the genomic DNA of 50 controls and 45 FSHD cases, 16 cases of sporadic FSHD and 19 cases of familial FSHD from 7 families, with restriction enzymes BglII and BlnI was followed by separation and Southern blotting with the probe p13E-11. By Scion Image program, the density of hybridized fragments was analyzed and the 4q:10q density ratio was then calculated to infer the types of 4q-10q translocation.