Pathological mutations in the glucocerebrosidase gene (GBA) have been suggested to be associated with Parkinson's disease (PD) in various ethnic populations. Most studies on Chinese PD patients have only screened the N370S and L444P mutations in the GBA gene. To investigate the GBA mutations in Chinese population, we performed complete sequencing of the GBA gene in 184 Chinese PD patients and 130 Chinese control individuals. As a result, we identified three novel and nine reported GBA mutations. The novel mutations include 5-bp deletion (c.334_338delCAGAA), L264I and L314V and the nine reported GBA mutations are R163Q, F213I, E326K, S364S, F347L, V375L, L444P, RecNciI and Q497R. The novel 5-bp deletion (CAGAA) produces a short truncated GBA protein of 142 amino acids, which loses major function domains of the 536 amino acids. Our data also reveals that the frequency of GBA mutations within this Chinese PD cohort was 8.7%, which is significantly higher than 1.54% observed in the Chinese control cohort (χ(2) = 7.22, P = 0.0072; odds ratio (OR) = 6.095, 95% confidence interval of OR = 1.546-24.030). The most common L444P mutation accounts 2.74%, which confer more genetic risk for PD in this Chinese population. In conclusion, novel and known GBA mutations were identified and were found to be associated to PD in this Chinese population.

OBJECTIVE Lumbar puncture may not be suitable for some patients needing subarachnoid puncture, while lateral C1-2 puncture and cisterna magna puncture have safety concerns. This study investigated lateral atlanto-occipital space puncture (also called lateral cisterna magna puncture) in patients who needed subarachnoid puncture for clinical diagnosis or treatment. The purpose of the study was to provide information on the complications and feasibility of this technique and its potential advantages over traditional subarachnoid puncture techniques. METHODS In total, 1008 lateral atlanto-occipital space puncture procedures performed in 667 patients were retrospectively analyzed. The success rate and complications were also analyzed. All patients were followed up for 1 week after puncture. RESULTS Of 1008 lateral atlanto-occipital space punctures, 991 succeeded and 17 failed (1.7%). Fifteen patients (2.25%) reported pain in the ipsilateral external auditory canal or deep soft tissue, 32 patients (4.80%) had a transient increase in blood pressure, and 1 patient (0.15%) had intracranial hypotension after the puncture. These complications resolved fully in all cases. There were no serious complications. CONCLUSIONS Lateral atlanto-occipital space puncture is a feasible technique of subarachnoid puncture for clinical diagnosis and treatment. It is associated with a lower rate of complications than lateral C1-2 puncture or traditional (suboccipital) cisterna magna puncture. It may have potential in the neurological diagnostic and treatment fields.

Objective. This study is aimed at examining the efficacy of human umbilical cord blood-mononuclear cell (hUCB-MNCs) transplantation through lateral atlanto-occipital space puncture in multiple system atrophy (MSA) treatment and investigating changes in T-cell subsets in peripheral blood and inflammatory factors in patients before and after treatment. Methods. A total of 20 patients with MSA who underwent hUCB-MNC transplantation through lateral atlanto-occipital space puncture in the Liaocheng People’s Hospital were enrolled. Patients were followed up at 0, 1, 3, and 6 months after treatment, and the Unified Multiple System Atrophy Rating Scale (UMSARS) scores, TNF-α in the peripheral blood, IL-6, percentage of CD4, and CD4/CD8 ratio were evaluated and compared for each follow-up point; any adverse effects were recorded. Results. UMSARS Part I scores were 20.55 ± 3.80 , 19.20 ± 3.78 , and 19.40 ± 4.11 , 1, 3, and 6 months, respectively, after treatment and were significantly lower as compared to that before treatment ( 23.50 ± 4.72 ; P < 0.05 ). Similarly, UMSARS Part II scores 1, 3, and 6 months after treatment were 25.50 ± 5.01 , 24.05 ± 5.01 , and 24.25 ± 5.05 , respectively, significantly lower as compared to that before treatment ( 30.15 ± 5.63 ; P < 0.05 ). The IL-6 values in the peripheral blood 1, 3, and 6 months after treatment were 5.25 ± 2.70   pg / m , 2.96 ± 1.75   pg / m , and 3.31 ± 1.62   pg / m , respectively, which were significantly lower ( P < 0.05 ) than that before treatment ( 8.22 ± 4.69 ) pg/m. The TNF-α levels at 3 and 6 months after treatment were 13.08 ± 6.13   pg / m and 12.24 ± 4.76   pg / m , respectively, which were significantly lower than that before treatment ( 22.99 ± 13.30 ; P < 0.01 ). The CD4/CD8 ratios in the peripheral blood 1, 3, and 6 months after treatment were 1.09 ± 0.25 , 1.30 ± 0.24 , and 1.43 ± 0.22 , respectively, which were significantly different than that before treatment ( 0.81 ± 0.24 , P < 0.01 ). Similarly, the CD4 percentages 1, 3, and 6 months after treatment were 34.09 ± 1.79 , 36.05 ± 1.50 , and 36.47 ± 1.47 , respectively, which were significantly different than that before treatment ( 0.81 ± 0.24 ; P < 0.01 ). Conclusion. hUCB-MNC transplantation through lateral atlanto-occipital space puncture could significantly improve the symptoms and signs in patients with MSA and delay the disease progression. Thus, hUCB-MNCs may modulate immune activity and reduce the inflammatory response.

Objectives: This study was designed to evaluate the effects of cord blood mononuclear cell transplantation in multiple system atrophy (MSA). Clinical Presentation and Intervention: Cord blood mononuclear cells (1-2 × 10⁸ cells/6 ml) were injected into the subarachnoid space using lumbar puncture in patients 1 and 2 and cisterna magna puncture in patient 3 in the 3 patients with MSA. The cord blood mononuclear cell transplantation was repeated 30 days after the first treatment in patients 1 and 2; it was repeated twice in patient 3. The clinical outcomes of treatment were used to assess the Unified Multiple System Atrophy Rating Scale (UMSARS) before, 90 and 180 days after the cell transplantation. There were no clinically noticeable side effects from the cord blood mononuclear cells. The UMSARS scores improved after 90 days of the cord blood mononuclear cell therapy in all 3 patients, the most significant improvement being that in urinary incontinence and ability to walk. Conclusions: Cord blood mononuclear cell transplantation was safe and potentially effective in the treatment of MSA in the 3 patients.