Chinese Parkinson's Disease Patients Research Articles

Combined diagnosis for Parkinson's disease via gait and eye movement disorders

Background and objectivesWith the discovery of the potential role of gait and eye movement disorders in Parkinson's disease (PD) recognition, we intend to investigate the combined diagnostic value of gait and eye movement disorders for PD. MethodsWe enrolled some Chinese PD patients and healthy controls and separated them into the training and validation sets based on enrollment time. Performance in five oculomotor paradigms and in one gait paradigm was examined using an infrared eye tracking device and a wearable gait analysis device. We developed and validated a combined model for PD diagnosis via multivariate stepwise logistic regression analysis. Furthermore, subgroup comparisons and multi-model comparison were performed to assess its applicability and advantages. ResultsA total of 145 PD patients and 80 healthy controls in China were recruited. The pro-saccade velocity, the trunk-sway max, and the turn mean angular velocity were finally screened out for the model development. Incorporating age factor, the ternary model demonstrated more satisfactory performance on ROC (AUC of 0.953 in the training set and AUC of 0.972 in the validation set), calibration curve, and decision curve. A nomogram was drawn to visualize the model. The combined model outperforms individual models with a broad application and the unique diagnostic value for early detection of PD patients, especially TD-PD patients. ConclusionWe demonstrated the presence of gait and eye movement disorders, as well as the feasibility, applicability, and superiority of employing them together to diagnose PD.

Evaluation of Nocturnal Symptoms in Chinese Parkinson's Disease Patients Based on the PDSS-2 Scale: A Multicenter Cross-Sectional Study.

Nocturnal symptoms have a significant effect on the quality of life in Parkinson's disease (PD) patients. This study aimed to investigate the prevalence and associated factors of nocturnal symptoms in Chinese PD patients. This multicenter cross-sectional study included 1,500 patients with primary PD from 18 centers in China was carried out between February 2019 and February 2020. Questionnaires including Parkinson's disease sleep scale 2 (PDSS-2), Parkinson's disease questionnaire 8 (PDQ-8), Beck depression inventory (BDI), and generalized anxiety disorder scale 7 (GAD-7) were used to assess nocturnal symptoms, quality of life, depression, and anxiety. Among 1,500 Chinese PD patients, 576 (38.4%) reported nocturnal symptoms. Of them, 59.2% were older than 65 years. The PDQ-8 total score was higher in patients with nocturnal symptoms (p < 0.01). Moderate and severe depression was reported more often in patients with nocturnal symptoms (p < 0.01), and the occurrence and severity of anxiety were higher as well (p < 0.01). Longer disease duration and higher Hoehn-Yahr (HY) stage were independently associated with nocturnal symptoms (p < 0.01). Education level, depression, disease course, HY stage, and nocturnal symptoms were related to the quality of life in Chinese PD patients (p < 0.01). Our study found that 38.4% of Chinese PD patients have nocturnal symptoms, even in early and mid-stage PD. Nocturnal symptoms were associated with worse quality of life and higher incidences of depression and anxiety. Nocturnal symptoms should be included in the assessment and care plan, especially in patients with longer disease courses and higher HY stages.

REM sleep behavior disorder correlates with constipation in de novo Chinese Parkinson's disease patients

REM sleep behavior disorder correlates with constipation in de novo Chinese Parkinson's disease patients

Association of serum uric acid levels with bone mineral density and the presence of osteoporosis in Chinese patients with Parkinson's disease: a cross-sectional study.

As the population ages, the incidence of osteoporosis among patients suffering from Parkinson's disease (PD) will surge continually, and the ensuing disability from falls is becoming a serious social burden. Due to its antioxidant properties, much literature has indicated the possible ability of serum uric acid (UA) to prevent ageing-related diseases caused by oxidative stress, including osteoporosis and PD. Therefore, this study was for exploring the connection of serum UA levels with bone mineral density (BMD) and the osteoporosis presence in Chinese PD patients. A cross-sectional design was used to statistically analyze 42 clinical parameters obtained from 135 patients with PD treated in Wuhan Tongji Hospital during 2020-2022. Multiple stepwise linear regression and multiple logistic regression analyses were constructed for identifying the association of serum UA levels with BMD as well as osteoporosis in PD patients, respectively. With receiver operative characteristic (ROC) curves, the optimal cutoff value was acquired for serum UA in the diagnosis of osteoporosis. According to the regression analysis adjusted for confounders, serum UA levels in PD patients had positive correlation with BMD at each site and negative correlation with the presence of osteoporosis (P < 0.05 for all). ROC curves determined that the optimal cutoff value for UA to perform well in diagnosing osteoporosis in PD patients was 284.27μmol/L (P < 0.001). Relatively higher serum UA levels in the physiological range can work as a biomarker of higher BMD, and were strongly linked to lower prevalence of osteoporosis in Chinese PD patients.

MiR-218-5p and miR-320a-5p as Biomarkers for Brain Disorders: Focus on the Major Depressive Disorder and Parkinson's Disease.

Depression is one of the early and most persistent non-motor symptoms of Parkinson's disease (PD), which remains ignored, resulting in the underdiagnosis of PD. Unfortunately, scarce studies and the non-availability of diagnostic strategies cause countless complications, highlighting the need for appropriate diagnostic biomarkers. Recently, brain-enriched miRNAs regulating vital neurological functions have been proposed as potent biomarkers for therapeutic strategies. Therefore, the present study is aimed to identify the brain-enriched miR-218-5p and miR-320-5p in the serum of the Chinese depressed PD patients (n = 51) than healthy controls (n = 51) to identify their potency as biomarkers. For this purpose, depressive PD patients were recruited based on HAMA and HAMD scores and miR-218-5p and miR-320-5p and IL-6, and S100B levels were analyzed using real-time PCR (qRT-PCR) and ELISA assay, respectively. In silico analysis was performed to identify key biological pathways and hub genes involved in the psychopathology of depression in PD. Here, we found significantly downregulated miR-218-5p and miR-320-5p following higher levels of IL-6 and S100B in depressed PD patients than in control (p < 0.05). The correlation analysis revealed that both miRNAs were negatively correlated with HAMA and HAMD, and IL-6 scores, along with a positive correlation with PD duration and LEDD medication. ROC analysis showed AUC above 75% in both miRNAs in depressed PD patients, and in silico analysis revealed that both miRNA's targets regulate key neurological pathways such as axon guidance, dopaminergic synapse, and circadian rhythm. Additional analysis revealed PIK3R1, ATRX, BM1, PCDHA10, XRCC5, PPP1CB, MLLT3, CBL, PCDHA4, PLCG1, YWHAZ, CDH2, AGO3, PCDHA3, and PCDHA11 as hub-genes in PPI network. In summary, our findings show that miR-218-5p and miR-320-5p can be utilized as future biomarkers for depression in PD patients, which may aid in the early diagnosis and treatment of Parkinson's disease.

Safety and Effectiveness of Rasagiline in Chinese Patients with Parkinson's Disease: A Prospective, Multicenter, Non-interventional Post-marketing Study.

Rasagiline is indicated for treating idiopathic Parkinson's disease (PD) as monotherapy and adjunct therapy to levodopa in patients. To assess the post-marketing safety and tolerability of rasagiline in Chinese PD patients, as well as its effectiveness in improving motor symptoms. This prospective, non-interventional, multicenter, cohort study included PD patients administered rasagiline monotherapy or adjunct therapy to levodopa. The primary outcome was the incidence of adverse drug reactions (ADRs) according to MedDRA® (version 22.0), and the secondary outcomes were the Parkinson's Disease Unified Rating Scale (UPDRS) part III, Clinical Global Impression-Severity (CGI-S), and Clinical Global Impression-Global-Improvement (CGI-I), assessed at Weeks 4, 12, and 24. In total, 734 patients, 95 in the monotherapy subgroup and 639 in the adjunct therapy subgroup, were included in the safety population. The incidence rates of all ADRs were comparable between the monotherapy (15.8%) and adjunct therapy (13.6%) subgroups. The most common ADRs by system organ class were nervous system disorders (5.6%), gastrointestinal disorders (3.3%), psychiatric disorders (1.8%), vascular disorders (1.2%), and general disorders and administration site conditions (1.1%). Five (0.7%) participants experienced 5 serious ADRs. Improvements in UPDRS part III, CGI-S and CGI-I at Weeks 4, 12 and 24 from baseline were observed. Safety data in this study indicated no extra safety concerns. Rasagiline is generally safe and well tolerated in Chinese PD patients. The safety profile and tolerability were in line with the established safety profile. Moreover, rasagiline reduced the severity of PD motor symptoms, confirming findings by previous clinical trials.

Seasonal variations of nonmotor symptoms in patients with Parkinson's disease in Southeast China.

Studies suggest seasonal fluctuations of symptoms in Parkinson's disease (PD) patients in Western countries. However, the association between seasonal change and variation in nonmotor symptoms (NMS) in Chinese PD patients is unclear. Here, we studied whether there is a change rule with annual cycle with severity of NMS for patients with PD in Southeast China. We studied 1005 PD patients between April 2008 and October 2020. Patients were classified into four seasons according to the 24 Chinese solar terms, based on assessment date. We compared comprehensive NMS scales and polysomnography parameters among groups and conducted further analysis of disease severity. Among the 1005 patients studied, the mean age was 64.2 ± 9.7 years and 569 (56.6%) of them were men. Relative to the summer group, patients assessed during winter had higher Scales for Outcomes in Parkinson's disease-Autonomic Dysfunction (SCOPA-AUT) scores ( P = 0.045). The sleep efficiency factor scores of Pittsburgh Sleep Quality Index in patients were higher during spring than summer ( P = 0.009). Among patients who completed polysomnography during the same period ( n = 135), compared with summer follow-ups, we observed a higher percentage of NREMS1 in winter and spring follow-ups ( P = 0.042, P = 0.011), a higher NREMS1 time in spring follow-ups ( P = 0.0024), a lower NREMS2 time in winter follow-ups ( P = 0.007), and a higher percentage of phasic RSWA in autumn and winter follow-ups ( P = 0.026 and P = 0.020, respectively). In a subset of patients with PD and REM sleep behavior disorder (RBD; n = 182), those visited during winter had higher scores for RBD questionnaire- Hong Kong and its factor 1 (dream-related sub-score) than those visited during summer ( P = 0.034, P = 0.020). We observed similar findings for SCOPA-AUT and sleep efficiency factor scores in early stage patients in subgroup analysis. PD patients assessed for follow-up during summer showed less severe symptoms of autonomic dysfunction and RBD symptoms than those assessed in winter, and less sleep disturbance than those in spring and winter, suggesting that seasonal change and NMS fluctuation are related, especially in patients with early stage PD.

REM sleep behavior disorder correlates with constipation in de novo Chinese Parkinson's disease patients.

Constipation, rapid eye movement sleep behavior disorder (RBD) and hyposmia are common prodromal symptoms of Parkinson's disease (PD), and they may represent two distinct types of disease origin, from the body or the brain. Our study aimed to compare the clinical characteristics of de novo PD patients with and without constipation and identify which prodromal symptoms were associated with constipation. A total of 111 de novo, drug-naïve Chinese PD patients were consecutively enrolled from Jan 2017 to Sept 2021. Patients were classified into PD with and without constipation based on item 5 of the Scales for Outcomes in Parkinson's disease-Autonomic Dysfunction (SCOPA-AUT). The demographic data, motor, and non-motor symptoms were compared between the two groups. The associated factors of constipation were analyzed by the multivariate logistic regression analysis. In total, 44.1% (n = 49) of de novo PD patients had constipation. PD patients with constipation were older (p = 0.028), had higher proportions of Hoehn and Yahr (H-Y) stage [Formula: see text] 2 (p = 0.002), clinical possible RBD (cpRBD) (p = 0.002) and depression (p = 0.023), as well as marginal increase of hyposmia (p = 0.058) and freezing of gait (p = 0.069). After adjusting for H-Y stage and other confounding factors, cpRBD (OR = 3.508, p = 0.009), rather than hyposmia or depression, was closely related to constipation in de novo Chinese PD patients. RBD is closely associated with constipation in de novo Chinese PD patients. Our results support the theory that prodromal symptoms that represent the same pathological origin are closely related to each other.

Distinctive acoustic changes in speech in Parkinson's disease

Dysarthria occurs in the early stage of Parkinson's disease (PD), and the pronunciation of speech sounds is significantly different between PD patients and healthy subjects. However, the formant frequencies of different syllables as vocalized by Chinese PD patients remain unknown. In this study, we recruited 83 PD patients and 44 healthy controls to perform a syllable phonation test. The results revealed that all PD patients presented lower formant frequencies than the control group for various vocalized syllables, presenting a weak correlation with the severity of the disease.

ANXA1 and the risk for early-onset Parkinson's disease

Recently, homozygous missense variants in ANXA1 were identified to cause parkinsonism by segregation analysis in a consanguineous family. However, no further replication has been conducted in a wider range of Parkinson's disease (PD) populations. To investigate the involvement of ANXA1 mutations in PD, we analyzed the rare variants in 743 Chinese early-onset PD (EOPD) patients (age at onset <50) using whole exome sequencing. The over-representation of rare variants in patients was examined with Fisher's exact test at allele and gene levels. We did not find the disease-causing variant described in the original study, and no patient carried other homozygous or compound heterozygous variants of ANXA1. Six rare missense mutations in ANXA1 were identified (minor allele frequency <0.01). No significant association was found between ANXA1 variants and PD at allele and gene levels. Genetic screening of ANXA1 mutations suggested rare variants of ANXA1 were rare in EOPD in the Asian ethnic background. Further explorations with larger sample size were warranted to better understand the role of ANXA1 in PD.

Clinical Characteristics of Minor Hallucinations in Chinese Parkinson's Disease Patients.

BackgroundPsychotic symptoms are common in Parkinson's disease (PD). However, the clinical characteristics of PD psychosis (PDP) have been rarely reported in Chinese PD patients. We aimed to categorize PDP in a PD cohort and its relationship to other clinical characteristics.MethodsA total of 149 Chinese PD patients were consecutively enrolled, and idiopathic PD patients were recruited in the study. The symptoms of PDP were assessed with the enhanced Scale for the Assessment of Positive Symptoms in PD. Then, the patients were classified into a PD-control group, isolated minor hallucination (MH) group, and complex MH group, and clinical and demographic data of different groups were compared.ResultsParkinson's disease psychosis was present in 40.3% (60/149) of our patients. The most common PDPs were MHs, present in 32.9% (49 of 149) of the cohort. Compared to patients without MHs, patients with MHs were older, had a longer disease duration, a higher levodopa equivalent daily dose, more severe motor symptoms, dyskinesia, a higher rate of rapid eye movement sleep behavior disorders, frontal lobe function impairments, and a higher percentage of cognitive impairment. Logistic regression analysis showed that advanced Hoehn-Yahr stage [odds ratio (OR): 2.697, p = 0.007)] and frontal lobe function impairment (OR: 0.684, p = 0.003) were independent risk factors for MHs.ConclusionMHs were frequent non-motor symptoms in PD patients. It was associated with increased motor and non-motor symptom burdens and reduced quality of life. MHs have been called “minor,” but they have major clinical and prognostic implications and need early screening.

Olfactory Function in Chinese Parkinson's Disease Patients: An Event-Related fMRI Study

Olfactory Function in Chinese Parkinson's Disease Patients: An Event-Related fMRI Study

Prevalence and Clinical Features of FOG in Chinese PD Patients, a Multicenter and Cross-Sectional Clinical Study.

Objectives: Freezing of gait (FOG) is generally considered as an independent symptom of Parkinson's disease (PD) with a complex pathophysiology. There is a wide range of associated clinical features of FOG reported from different studies without consistent conclusion. Thus, a multicenter, cross-sectional study was designed to investigate the prevalence and clinical features of FOG together with its unique contribution quality of life in Chinese PD patients.Methods: Eight hundred and thirty eight PD patients were consecutively recruited into this study from 12 hospital centers in six provinces in China. Clinical information, including motor and neuropsychological features as well as pharmacological details, was collected.Results: Of 827 PD patients, 245 (29.63%) reported FOG. The prevalence of FOG was strongly correlated with modified H-Y stages and symptomatic duration (p < 0.01). 84.90% freezers experienced FOG during turning and 88.98% experienced when initiating the first step. Compared with non-freezers, freezers reported longer disease duration (7.73 ± 5.44 vs. 4.69 ± 3.94, p < 0.000), higher frequent PIGD phenotype (61.22 vs. 35.91%, p < 0.000), higher scores of UPDRS III (32.85 ± 15.47 vs. 22.38 ± 12.89, p < 0.000), HAMA (10.99 ± 7.41 vs. 7.59 ± 6.47, p < 0.000), HAMD (15.29 ± 10.29 vs. 10.58 ± 8.97, p < 0.000) and lower MMSE score (25.12 ± 5.27 vs. 26.63 ± 3.97, p < 0.000), and higher daily levodopa dosage (432.65 ± 264.31 vs. 319.19 ± 229.15, p < 0.000) with less frequent initial use of dopaminergic agonist (8.57 vs. 14.78%, p < 0.05). Using binary logistic regression, the associated factors of FOG might be non-tremor dominant onset (OR = 3.817, p < 0.000), the presence of anxiety (OR = 2.048, p < 0.000) and imbalance (OR = 4.320, p = 0.012). Freezers had poorer quality of life than non-freezers and FOG impacted PDQ-8 independently.Conclusion: Nearly one third of the PD patients experienced FOG. Its frequency increased with PD progression and FOG reduced independently the quality of life. Non-tremor dominant, disease progression, and anxiety were risk factors of FOG.

Mutation analysis of seven SLC family transporters for early-onset Parkinson's disease in Chinese population

The solute carrier (SLC) transporters have been suggested to play important roles in neurodegenerative disorders. Recently, seven SLC transporters were identified to be associated with Parkinson's disease (PD) by genome-wide association studies. However, few replications were conducted, and whether rare variants in these genes were associated with PD was not explored yet. To elucidate the genetic associations of these SLCs with PD, we investigated the rare variants in 743 Chinese early-onset PD (EOPD) patients using whole-exome sequencing, and evaluated the association between rare variants and PD at allele and gene levels. Totally, 58 rare variants were identified in SLC50A1, SLC41A1, SLC45A3, SLC44A4, SLC56A2, SLC2A13 and SLC38A1. At allele level, 6 variants were nominally associated with PD, namely p.S423G in SLC45A3, p.I551V, p.T435S, p.R323C and p.V101M in SLC2A13, and p.R285Q in SLC41A1. Gene-based burden analysis showed enrichment of rare variants of SLC2A13 in EOPD. Our study systematically analyzed the genetic involvement of SLCs in EOPD, identified SLC2A13 as a risk gene for PD, and broadened the current mutation spectrum of PD.

Prevalence and Risk Factors for Malnutrition in Patients With Parkinson's Disease.

Objectives: This study aimed to investigate the relationship between nutritional status and Parkinson's disease (PD) features.Methods: The cohort was composed of 556 Parkinson's patients who were admitted to the hospital. Patients were categorized as normal nutrition or at risk of malnutrition/already malnourished. Questionnaires, physical examinations, and biochemical tests were conducted. The relationship between nutrition status and PD was analyzed using t-tests, χ2-tests, and logistic regression models.Results: The prevalence of malnutrition [defined as a Mini Nutritional Assessment (MNA) score <17] was 39.2%, and 30.3% of patients were at risk of malnutrition (17 ≤ MNA score ≤ 23.5). There was no difference in gender and age between the different nutrition groups (P < 0.05). Patients at risk of malnutrition and those who were malnourished had a longer course of disease, more severe motor symptoms, a higher stage of PD according to the Hoehn and Yahr (H-Y) classification, a lower body mass index (BMI) index, a lower cognitive score, higher levels of depression and anxiety, and more serious non-motor symptoms (P < 0.05) than patients with normal nutrition. There were differences in adenosine deaminase, albumin, phosphorus, chlorine, total protein, and uric acid between the two groups (P < 0.05). High Unified PD Rating Scale (UPDRS-III) scores, high H-Y stages, and dyskinesia were risk factors for malnutrition in PD patients, while high levels of total protein, uric acid, and chlorine were protective factors that led to good nutrition (P < 0.05).Conclusions: Our results showed that dyskinesia, disease severity, total protein levels, uric acid levels, and chlorine levels were associated with nutritional status among Chinese PD patients. The findings of this study indicate the significance of the early detection and prevention of malnutrition to improve the quality of life of PD patients.

Polymorphism of the Dopa-Decarboxylase Gene Modifies the Motor Response to Levodopa in Chinese Patients With Parkinson's Disease.

Levodopa (L-DOPA) is the most effective drug for Parkinson's disease (PD). However, the response to L-DOPA remains individually variable, which hampers the practical value of L-DOPA in the clinic. Genetic factors play a role in L-DOPA efficacy. This study explored the associations between polymorphisms and motor response to L-DOPA in Chinese patients with PD. A total of 51 Chinese PD patients were enrolled in this study. Patients underwent an acute L-DOPA challenge and were evaluated by the Unified Parkinson Disease Rating Scale (UPDRS) part III at baseline and after L-DOPA administration. Subjects were genotyped for polymorphisms: rs921451 and rs3837091 in the DDC loci, rs3836790 in the SLC6A3 locus, rs4680 in the COMT locus, and rs1799836 in the MAOB locus. We found that patients carrying the DDC CT or TT genotype exhibited a better motor response to L-DOPA than patients with the DDC CC genotype, and there was still a significant difference after adjustment for the L-DOPA dose in the acute challenge. Improvement in the UPDRS III subscores, including bradykinesia and axial symptoms, was significantly lower in patients with the DDC CC genotype than in patients with the CT or TT genotype. There were no significant associations between the motor response to L-DOPA and the rs3837091, rs3836790, rs4680, and rs1799836 variants. The DDC single nucleotide polymorphism rs921451 modulated the motor response to L-DOPA in Chinese PD patients. Our results suggested that DDC may be a modifier gene for the L-DOPA treatment response in PD.

Investigation on sleep and mental health of patients with Parkinson's disease during the Coronavirus disease 2019 pandemic

BackgroundThe coronavirus disease 2019 (COVID-19) pandemic is adversely affecting sleep quality and mental health, especially in individuals with chronic disease such as Parkinson's disease (PD). MethodsWe conducted a quantitative study, which included 119 Chinese PD patients who had been treated in an outpatient neurology clinic in Wuhan and 169 age- and sex-matched healthy controls. The questionnaire survey focused on the impact of the COVID-19 pandemic on sleep, mental status, symptoms, and daily life and medical treatment of PD patients. ResultsCompared to healthy controls, PD patients had significantly higher scores in both the Pittsburgh Sleep Quality Index (PSQI) (8.13 vs 5.36, p < 0.001) and the Hospital Anxiety and Depression Scale (HADS) -Depression (4.89 vs 3.82, p = 0.022), as well as a higher prevalence of sleep disturbances with PSQI > 5 points (68.9% vs 44.4%, p < 0.001). Sleep disturbance was identified in 68.9% of PD patients. A logistic regression analysis showed that sleep disturbance of PD patients was independently associated with exacerbation of PD symptoms (OR = 3.616, 95%CI= (1.479, 8.844), p = 0.005) and anxiety (OR = 1.379, 95%CI= (1.157, 1.642), p < 0.001). Compared to male PD patients, female ones had higher PSQI scores (9.28 ± 4.41 vs 7.03 ± 4.01, p = 0.009) and anxiety (32.8% vs 0.1%, p = 0.002) and depression prevalence (34.5% vs 11.5%, p = 0.003). ConclusionThe findings of the present study emphasize the importance of mental and sleep health interventions in PD patients during the COVID-19 pandemic. Additional attention should be paid to the difficulty encountered by PD patients in seeking medical treatment.

Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

BackgroundTo date, several studies have suggested that genes involved in monogenic forms of Parkinson's disease (PD) contribute to unrelated sporadic cases, but there is limited evidence in the Chinese population.MethodsWe performed a systematic analysis of 12 autosomal‐dominant PD (AD‐PD) genes (SNCA, LRRK2, GIGYF2, VPS35, EIF4G1, DNAJC13, CHCHD2, HTRA2, NR4A2, RIC3, TMEM230, and UCHL1) using panel sequencing and database filtration in a case‐control study of a cohort of 391 Chinese sporadic PD patients and unrelated controls. We evaluated the association between candidate variants and sporadic PD using gene‐based analysis.ResultsOverall, 18 rare variants were discovered in 18.8% (36/191) of the index patients. In addition to previously reported pathogenic mutations (LRRK2 p.Arg1441His and p.Ala419Val), another four unknown variants were found in LRRK2, which also contribute to PD risk (p = 0.002; odds ratio (OR) = 7.83, 95% confidence intervals (CI) = 1.76–34.93). The cumulative frequency of undetermined rare variants was significantly higher in PD patients (14.1%) than in controls (3.5%) (p = 0.0002; OR=4.54, 95% CI = 1.93‐10.69).ConclusionOur results confirm the strong impact of LRRK2 on the risk of sporadic PD, and also provide considerable evidence of the existence of additional undetermined rare variants in AD‐PD genes that contribute to the genetic etiology of sporadic PD in a Chinese cohort.

Clinical and Oculomotor Correlates With Freezing of Gait in a Chinese Cohort of Parkinson's Disease Patients.

Accumulating evidence suggests that freezing of gait (FOG) is a unique gait disturbance in Parkinson’s disease (PD), and its pathophysiology is not fully elucidated. The present study aims to investigate the clinical and oculomotor associations with FOG in Chinese PD patients. From Jan 2017 to Dec 2019, a total of 210 PD patients were consecutively registered for FOG evaluation based on item-3 of the Freezing of Gait Questionnaire (FOGQ). We explored the demographic, motor, and non-motor symptom differences in FOG positive (PD+FOG, n = 45) vs. negative (PD-FOG, n = 165) group. In addition, 40 PD patients and 37 healthy controls (HC) also underwent oculomotor test via videonystagmography (VNG). Visually guided saccade (VGS) latency, saccade accuracy and gain in smooth pursuit eye movement (SPEM) at three frequencies of horizontal axis were compared among PD+FOG (n = 20), PD-FOG (n = 20), and HC (n = 37). Compared with PD-FOG, PD+FOG had longer disease duration, more severe motor symptoms, lower cognitive scores, more severe depressive and autonomic impairments, as well as higher daily levodopa equivalent dosage. FOG occurred more frequently in patients with wearing-off. VNG subgroup analysis demonstrated that PD+FOG had prolonged saccade latency and decreased saccade accuracy relative to PD-FOG or HC. SPEM gain at 0.1 and 0.2 Hz was also decreased in PD+FOG compared with HC. Furthermore, prolonged saccade latency was correlated with higher FOGQ scores in PD patients. Our results verify that PD with FOG patients suffer from more severe motor and non-motor symptoms, indicating more extensive neurodegeneration. Prolonged saccade latency could be a practical oculomotor parameter both for identification and progression of FOG in PD.

Analysis of Motor Complication and Relative Factors in a Cohort of Chinese Patients with Parkinson's Disease.

Objective Motor complications are common in Parkinson's disease (PD). The reported occurrence of motor complications varies across regions and races. The aim of our study was to describe the development of dyskinesias and motor fluctuations among Chinese PD patients and the relative risk factors. Methods In the current cross-sectional survey study, PD patients with motor fluctuations and dyskinesia were enrolled from March to November 2018 in Shaanxi province, a northwest area of China. Data were collected by the movement disorder specialists. A self-designed questionnaire was utilized during face-to-face interviews. In addition, the relevant factors of motor complications were analyzed by univariable and multivariable analyses. Results Of the166 PD patients recruited, 52 (31.33%) and 25 (15.06%) patients had motor fluctuations and dyskinesia, respectively, which occurred in 6.76 ± 3.77 and 8.61 ± 4.46 years after the onset of motor symptoms and 5.37 ± 3.33 and 6.80 ± 3.43 years after the treatment of levodopa therapy, respectively. Patients with motor fluctuations and dyskinesias had longer disease duration, younger onset age, higher Hoehn–Yahr stages and UPDRS III scores, higher daily levodopa dosage and levodopa equivalent daily dose (LEDD), and longer duration of levodopa treatment (P < 0.05). Bradykinesia-rigidity dominant patients had higher incidences of motor fluctuations (61.54% vs 38.46%) and dyskinesias (68.00% vs 32.00%) than tremor-dominant patients (P < 0.05). Results of the multivariate logistic regression analyses showed that the duration of levodopa therapy, age of the onset, and bradykinesia-rigidity dominant type were independent risk factors of motor fluctuations (P < 0.05). In addition, duration of disease and bradykinesia-rigidity dominant type were independent risk factors of dyskinesia (P < 0.05). Conclusions The rate of motor fluctuations was higher than dyskinesias in Chinese patients with Parkinson's disease. Patients with younger age onset, bradykinesia-rigidity dominant type, longer disease duration, and longer duration of levodopa therapy are more likely to develop motor complications.