No abstract

Recent studies in Japan have associated multiple system atrophy (MSA), a neurodegenerative disease of uncertain etiology, with polymorphism in the COQ2 gene. This led us to explore whether the same polymorphism is associated with MSA in Han Chinese and more broadly in East Asians. We conducted a case-control study with 82 Han Chinese with probable MSA and 484 gender- and age-matched healthy subjects, genotyping them using the ligase detection reaction. The results were meta-analyzed together with data from four previous studies to gain a broader picture of possible disease associations in East Asian populations. The COQ2 variants M78V and R337X were not detected in our Han Chinese patients or controls; only the heterozygous V393A variant (CT genotype) was detected. The frequency of this genotype was significantly higher in patients (7.3%) than in controls (1.86%; OR 4.17, 95% CI 1.44-12.04, p = 0.004). Subgroup analysis among patients showed a significant association of V393A with MSA involving cerebellar signs (MSA-C; OR 4.59, 95% CI 1.36-15.48, p = 0.007), but not with MSA involving parkinsonism (MSA-P). Meta-analysis of our results in Han Chinese with data from case-control studies in Japan, Korea, mainland China and Taiwan showed a significant association of V393A with MSA (OR 2.05, 95% CI 1.29-3.25, p = 0.002), which subgroup analysis showed to be significant for MSA-C (OR 2.75, 95% CI 1.98-3.84, p < 0.001) but not for MSA-P (OR 1.25, 95% CI 0.64-2.46, p = 0.51). These findings provide evidence that the previously reported association of COQ2 V393A polymorphism with increased risk of MSA in Japanese also applies to Han Chinese, as well as more broadly to other East Asian populations. This association may be particularly strong for MSA-C.

No abstract

Guillain-Barré syndrome (GBS) is the most common acute paralytic neuropathy, characterized by symmetrical weakness of the limbs and hyporeflexia or areflexia. GBS usually occurs after an infection, with two-thirds of GBS patients having a history of respiratory or gastrointestinal infection before GBS onset. 1 During the progressive phase, 20%-30% of patients need mechanical ventilation (MV) in an intensive care unit (ICU) because of respiratory failure, which can worsen functional outcomes and even lead to death. 2-4 Therefore, it is very important to find early predictors of MV in patients with GBS.

including cognition deficiency, psychiatry symptoms, sleep disruption, and sensory abnormalities, has recently been reported in ET syndrome. 2 Besides, accumulating evidence on different etiologies, pathophysiologies, and clinical features has demonstrated the heterogeneity of ET syndrome, even giving rise to a new placeholder, ET-plus. 2,3 Due to such heterogeneity, its disease sub-types should be extensively studied to understand the inherent mechanisms of ET syndrome.

Background The International Parkinson and Movement Disorder Society introduced the category of essential tremor (ET)‐plus in its new ET classification scheme, but how the clinical correlates of ET‐plus differ from those of “pure” ET is unclear. By comparing the clinical characteristics of ET and ET‐plus patients, we expect to better understand the impact and invoked questions of the new classification on clinical practice. Methods We reviewed the medical records of 280 ET syndrome patients in an ongoing cross‐sectional study in a Chinese population and reclassified them according to the new criteria. Clinico‐demographic characteristics were compared between ET and ET‐plus patients. Risk factors of diagnosis of ET‐plus were explored using logistic regression. Results A total of 121 patients (50.8%) were reclassified as having ET and 117 as having ET‐plus. ET‐plus group was significantly older at tremor onset, less educated, and more likely to have cranial tremor, depression symptom, anxiety symptom, and probable REM sleep behavior disorder. ET‐plus group also showed more severe upper limb tremor and cognition impairment. Regression analysis identified four independent risk factors associated with ET‐plus: late tremor onset (OR 3.04, 95%CI 1.60‐5.79), less educated (OR 0.91, 95%CI 0.85‐0.97), severe upper limb tremor (OR 2.46, 95%CI 1.30‐4.62), and presence of cranial tremor (OR 2.30, 95%CI 1.20‐4.41). Conclusions The new classification scheme emphasized that ET syndrome is heterogeneous. ET‐plus cannot be seen as a subtype or a diagnosis of ET syndrome, but rather as a placeholder, representing an area of current scientific uncertainty.

Background: Essential tremor (ET) is one of the most common movement disorders, and it has been associated with anxiety and depression, but risk factors for these mental symptoms are unclear. This study aimed to evaluate the prevalence and potential risk factors of depression and anxiety in ET patients in China.Methods: This cross-sectional study involved 245 Han Chinese patients with ET. Depression was assessed using the Hamilton Depression Rating Scale-24 Items, and anxiety was assessed using the Hamilton Anxiety Rating Scale. Clinico-demographic characteristics were compared between patients with or without depression or anxiety.Results: We revealed that 63.3% of patients had at least mild anxiety and 54.3% had at least mild depression. Severity of anxiety or depression was correlated with lower Mini-Mental State Exam score (P = 0.028 and P = 0.002, respectively), higher self-report functional disability score (P = 0.027 and P = 0.003, respectively), as well as the presence of tremor in the neck (both P < 0.001), face (P = 0.025 and P < 0.001, respectively), or voice (both P < 0.001). Binary logistic regression identified female sex, presence with cranial tremor, and greater functional disability score as risk factors of anxiety; the last two factors were also the determinants of depression. Neither anxiety nor depression correlated with physician-assessed severity of arm or leg tremor.Conclusion: Chinese ET patients show high prevalence of depression and anxiety. ET patients should be screened for these mental symptoms, especially women and those with cranial tremor and self-reported functional disability.

No abstract