Clinical characteristics of late-onset myasthenia gravis.

Objective: Late-onset myasthenia gravis (LOMG) often has comorbidities, and its initial symptoms may be ignored or misdiagnosed as other diseases. There were few large surveys on LOMG. Our study aimed to summarize clinical characteristics of LOMG to improve the rate of correct MG diagnosis. Methods: A retrospective cohort study included 240 LOMG patients with onset age ≥65 years old who were treated at PLA General Hospital from January 1, 2003 to January 1, 2023. Results: The male to female ratio was 1:1.2 (P = 0.699). MGFA clinical classification: Class I 31.3%, Class IIa 12.9%, Class IIb 51.3%, Class IIIa 0.8%, Class IIIb 0.8%, Class IV 0.4%, Class V2.5%. The onset symptom was ptosis in 78.8% and diplopia was in 18.8%. Swallowing dysfunction in the stage of LOMG was in 41.7%. The incidence of thymoma in LOMG was 14.2%. 85.4% of patients antibodies against the muscle acetylcholine receptor (AChR) are detected. The overall incidence of supramaximal repetitive nerve stimulation (Jolly test) was 57.1%, among which the highest positive rate (50.7%) was in the facial nerve. Jolly test of Class IIb was tested in the highest positive rate and Class I was in the lowest one (χ2 = 7.023, P = 0.030). Conclusion: There was no significant difference in the incidence of LOMG between males and females. The clinical manifestations were mainly Class I and Class II, and severe MG was rare. The most common onset symptom was ptosis. The incidence of LOMG with thymoma was low. Supramaximal repetitive nerve stimulation (Jolly test) of the facial nerve was the easiest to detect and Jolly test of Class IIb was tested in the highest positive rate and Class I was in the lowest one.

Dilemma in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease：Comorbidity or Independent Disease?

Both Huntington's disease (HD) and Spinocerebellar ataxia 17 (SCA17) mutations showed expanded CAG repeats, with overlapping clinical manifestation: motor disorders, psychiatric symptoms and cognitive impairments. Therefore, SCA17 is also called Huntington like disease (HD-like, HDL) type 4. In this paper, we reported that one patient had 47 CAG repeats in HTT gene and 42 CAG repeats in TBP gene. There is a dilemma in differentiation of SCA 17 from HD in one patient, never been reported before. Is the diagnosis comorbidity of HD with SCA17 or HD only?

Neuro-protective effects of n-butylphthalide on carbon monoxide poisoning rats by modulating IL-2, AKT and BCL-2.

Acute carbon monoxide poisoning (CO-poisoning) causes neurotoxicity by inducing necrosis, apoptosis, lipid peroxidation, and oxidative stress. DL-3-n-butylphthalide (NBP) is a synthetic compound originally extracted from the seeds of Chinese celery and based on pure l-3-n-butylphthalide. In ischemia/reperfusion, it exerts neuroprotective effects through its anti-apoptotic, anti-necrotic and antioxidant properties, and activation of pro-survival pathways. Our study performed bioinformatic analysis to identify the differential expression genes. CO-poisoning patients' blood was collected to confirm the findings. Male rats were exposed to CO 3000 ppm for 40 min, and NBP (100 mg/kg/day) was continuously injected intraperitoneally immediately after poisoning and for the next 15 days. After NBP treatment, the rats were evaluated by Morris water maze test. At the end of experiments, blood and brain tissues of the rats were collected to evaluate the expression levels of IL-2, AKT and BCL-2. We found that IL-2 was elevated in CO-poisoning patients and animal models. Brain tissue damage in CO-poisoning rats was significantly alleviated after NBP treatment. Furthermore, NBP increased the expression of IL-2, AKT and BCL-2 in rat CO-poisoning model. NBP showed neuroprotective action by increasing IL-2, AKT, and BCL-2 expressions.

The High Value of External Anal- and Urethral-Sphincter Electromyography in Differential Diagnosis with MSA-P, PD, and PSP.

Objective: It is a challenge to differentiate multiple system atrophy parkinsonism (MSA-P), Parkinson's disease (PD), and progressive supranuclear palsy (PSP). We aimed to explore the value of external anal-sphincter electromyography (EAS-EMG) and urethral-sphincter electromyography (US-EMG) in differential diagnosis with MSA-P, PD, and PSP. Methods: A total of 149 subjects, including 27 MSA-P, 100 PD, and 22 PSP, were recruited. The average duration and amplitude of motor unit potentials (MUPs), percentage of polyphasic MUPs, amplitude during strong contraction, and recruitment pattern during maximal voluntary contraction were recorded. The differences in EAS-EMG and US-EMG results between MSA-P, PD, and PSP were analyzed. Results: In EAS-EMG examination, the average duration of MUPs of MSA-P was significantly longer than that of PD and PSP; the percentage of polyphasic MUPs and the ratio of simple phase and simple-mix phase of MSA-P and PSP were significantly higher than that of PD; the amplitude during strong contraction of MSA-P was significantly lower than that of PD. In US-EMG examination, the average duration of MUPs in male MSA-P was significantly longer than that in male PD and PSP; the ratio of simple phase and simple-mix phase in male MSA-P was significantly higher than that in male PD; there was no statistical difference in US-EMG indexes between male PD and PSP male. And because only one female PSP was examined, only female MSA-P and PD were compared, the average duration of MUPs in female MSA-P was significantly longer than that in female PD; the ratio of simple phase and simple-mix phase in female MSA-P was significantly higher than that in female PD. Conclusion: The average duration of MUPs and the ratio of the simple phase and simple-mix phase of EAS-EMG and US-EMG all can provide the basis for the differential diagnosis between MSA-P and PD. US-EMG can be used as a supplement to differentiate MSA-P from PD when EAS-EMG is limited. The only discriminating indicator between MSA-P and PSP seems to be the average duration of MUPs of EAS-EMG and US-EMG. There is still a lack of diagnostic electromyography indicators between PD and PSP.

Clinical Reasoning: A 17-Year-Old Girl With Progressive Cognitive Impairment.

A 17-year-old girl presented with a long history of cognitive impairment, personality and behavioral changes, dysarthria, and paroxysmal lower-extremity weakness. She was initially suspected of having mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes because of stroke-like symptoms, such as episodic lower-extremity weakness, as well as abnormal brain MRI findings of generalized cerebral atrophy, extensive high-intensity lesions in the cortex and subcortical white matter on fluid-attenuated inversion recovery images, decreased N-acetyl aspartate/creatine ratio, and a lactate peak in the focal area on spectrum images. However, there were no relatives with similar presentations in the family of the patient. The whole mitochondrial genome and whole-exome sequencing did not suggest pathogenic mutations, and no abnormalities were found in the blood or CSF lactate levels. In this case, we detail the clinical manifestations, diagnostic workup, and imaging findings. This case highlights the importance of assessing cognitive function and the relevant differential diagnoses in an adolescent with cognitive impairment.

Dizziness in a tertiary neurological department: A cross-sectional study.

BACKGROUND AND OBJECTIVE: Dizziness is a common and challenging symptom, which can be caused by different pathophysiological mechanisms and might affect a large number of population. However, up to now, there have been limited research on the characteristics of dizziness as the chief complaint in hospitalized patients in the Department of Neurology. Thus, the aim of this study was to investigate the hospitalized patients with dizziness as their chief complaint in the Department of Neurology. METHODS: In this cross-sectional study, we conducted a retrospective document analysis of hospitalized patients admitted to a tertiary neurological department with the symptom of dizziness during the period of September 2019 to December 2020. We included 211 patients with dizziness as their chief complaint from 1841 patients admitted to this tertiary neurological department during that period. RESULTS: Of all 1841 hospitalized patients, those with dizziness as the chief complaint accounted for 11.5% and most of their past medical history included hypertension, diabetes, cerebrovascular diseases, dyslipidemia, and coronary heart disease. Among these 211 patients, dizziness was more common in women than in men (p = .004). More patients presented with vertigo (40.8%) and light-headedness (39.8%) than disequilibrium (17.1%) and pre-syncope (2.4%). Nausea (48.3%), vomiting (34.1%), headache (13.3%), walking unsteadily (13.3%), and ear symptoms (12.8%) were the most common concomitant symptoms. Dix-Hallpike test (24.6%) and Romberg's sign (11.4%) were positive in these dizzy patients. Nystagmus (2.4%), vision changes (1.4%), and hearing disorders (8.5%) were relatively rare symptoms. Common auxiliary examinations were performed, such as magnetic resonance imaging (60.2%), computed tomography (31.8%), carotid duplex ultrasound (30.8%), and echocardiography (28.0%). Benign paroxysmal positional vertigo (24.2%) and stroke/transient ischemic attack (19.0%) were confirmed to be common causes of dizziness. Note that 97.2% of dizzy patients were in improved recovery after treatment. CONCLUSION: The diagnosis and management of dizziness remain a challenge for clinicians. Vertigo and light-headedness were the most common symptoms among different types of dizziness. Benign paroxysmal positional vertigo and stroke/transient ischemic attack were among the leading causes for common dizziness disorders. The prognosis of most dizzy patients was good.

Clinical characteristics of two patients with neuronal intranuclear inclusion disease and literature review.

Background: Neuronal intranuclear inclusion disease (NIID) is a rare chronic progressive neurodegenerative disease, with complex and diverse clinical manifestations and pathological eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and visceral organs. Improvements in diagnostic methods such as skin biopsy and gene testing are helpful in revealing the clinical and genetic characters of NIID. Materials and methods: We presented two cases of NIID diagnosed by using NOTCH2NLC gene testing and skin biopsy. Diffusion weighted imaging (DWI) showed high linear intensity in corticomedullary junction. We also reviewed all the published NIID cases with positive NOTCH2NLC GGC repeat expansion and skin biopsy results in PubMed. Results: Patient 1 was a 63-year-old male who carried 148 GGC repeats and presented with progressive tremor and limb weakness. Patient 2 was a 62-year-old woman who carried 131 GGC repeats and presented with tremors, memory loss and headaches. The most common clinical manifestation of 63 NIID patients in this study was cognitive impairment, followed by tremors. In our study, almost all the patients were from East Asia, the male to female ratio was 1:1.26, with an age of onset of 54.12 ± 14.12 years, and an age of diagnosis of 60.03 ± 12.21 years. Symmetrical high signal intensity at the corticomedullary junction on DWI were revealed in 80.96% of the patients. For the GGC repeat numbers, the majority of GGC repeats were in the 80-119 intervals, with few GGC repeats above 160. The number of GGC repetitions was significantly higher in patients presented with muscle weakness than in other clinical manifestations. Conclusion: NIID is a neurodegenerative disease caused by aberrant polyglycine (polyG) protein aggregation. NIID mostly occurs in the elderly population in East Asia, with cognitive dysfunction as the most common symptom. Staging NIID based on clinical presentation is inappropriate because most patients with NIID have overlapping symptoms. In our study, there was no significant correlation between the number of GGC repeats and different phenotypes except for muscle weakness. Abnormal trinucleotides repeat and PolyG protein aggregation maybe common pathogenic mechanism in neurodegenerative diseases and cerebrovascular diseases, which needs to be confirmed by more studies.

Neuroimaging and clinicopathological differences between tumefactive demyelinating lesions and sentinel lesions of primary central nervous system lymphoma.

Objective: It is still a challenge to distinguish sentinel lesions of primary central nervous system lymphoma (PCNSL) from atypical tumefactive demyelinating lesions (TDLs) in clinical practice. We aimed to investigate potential differences of clinical features, neuroimaging findings and pathological characteristics between PCNSL and TDLs, improving early accurate diagnosis. Methods: It was a retrospective study involving 116 patients with TDLs and 150 patients with PCNSLs. All cases were pathologically confirmed. Clinical features, neuroimaging findings and pathological characteristics between two groups were analyzed. Results: The onset age was 37 ± 14 years in TDLs and 58 ± 13 years in PCNSL(p=0.000). Main onset symptom was headache in TDLs, while cognitive impairment was frequently noted in PCNSL. CT brain scan image showed hypodense lesions in most cases of TDL (110/116, 94.8%), while approximately 80% patients (120/150) with PCNSL had hyperdense lesions. Furthermore, we found that the presence of Creutzfeldt-Peters cells (might be misdiagnosed as tumor cells) may serve as an important feature in TDLs. Conclusions: Onset age of patients with TDLs was younger than PCNSL. Neuroimaging features on brain CT scan might provide clues to make a differential diagnosis. Pathological features of PCNSL with sentinel lesions or following steroids therapy might mimic TDLs. Dynamic neuroimaging pathological and follow-up information were essential for an accurate diagnosis.

[Morvan syndrome with positive anti LGI1/CASPR2 antibodies in serum/cerebrospinal fluid:a case report and literature review].

To report a typical case of Morvan syndrome with positive anti-leucine rich glioma-inactivated 1(LGI1) and contactin-associated protein 2 (CASPR2) antibodies in serum and cerebrospinal fluid. A 39-years-old female initially presented weakness of extremeties. The main symptoms included paroxysmal limb pain, wheezing, itching, muscle twitching, epilepsy, hypomnesia, dysphoria, apathy, intractable insomnia, salivation and sweating. Tests of electrolytes found hypokalemia (2.7-3.1 mmol/L) and hyponatremia (130-136 mmol/L). Arterial blood gas analysis showed hypoxemia (oxygen saturation 50%-70%). Total thyroxine (TT4) was elevated to 207 nmol/L with positive thyroid peroxidase antibody (TPO-Ab) and thyroglobulin antibody (TG-Ab). LGI1and CASPR2 antibodies (CBA method) were positive in both serum and cerebrospinal fluid, and the remaining antibodies related to autoimmune encephalitis and paraneoplastic syndrome were negative. Head MRI was almost normal, while mild abnormalities were found in electroencephalogram. Electromyography showed slightly increased voltage of left quadriceps motor unit potential. After treated with corticosteroids, IVIG and mycophenolate mofetil, the patient completely improved. Cognitive function scores recovered from MoCA/MMSE (16/24) to MoCA/MMSE (26/29). Positivity of LGI1/CASPR2 antibodies both in serum/cerebrospinal fluid are rarely seen in patients with Morvan syndrome. Steroids and immunosuppressants are suggested for treatment as early as possible.

The role of the microRNA regulatory network in Alzheimer's disease: a bioinformatics analysis.

INTRODUCTION: Alzheimer's disease (AD) is a neurodegenerative disease which presents with an earlier age of onset and increased symptom severity. The objective of this study was to evaluate the relationship between regulation of miRNAs and AD. MATERIAL AND METHODS: We completed a bioinformatic analysis of miRNA-AD studies through multiple databases such as TargetScan, Database for Annotation, Visualization and Integrated Discovery (DAVID), FunRich and String and assessed which miRNAs are commonly elevated or decreased in brain tissues, cerebrospinal fluid (CSF) and blood of AD patients. All identified articles were assessed using specific inclusion and exclusion criteria. RESULTS: MiRNAs related to AD of twenty-eight studies were assessed in this study. A wide range of miRNAs were up-regulated or down-regulated in tissues of AD patients' brain, blood and CSF. Twenty-seven differentially dysregulated miRNAs involved in amyloidogenesis, inflammation, tau phosphorylation, apoptosis, synaptogenesis, neurotrophism, neuron degradation, and activation of cell cycle entry were identified. Additionally, our bioinformatics analysis identified the top ten functions of common miRNAs in candidate studies. The functions of common up-regulated miRNAs primarily target the nucleus and common down-regulated miRNAs primarily target transcription, DNA-templated. CONCLUSIONS: Comprehensive analysis of all miRNA studies reveals cooperation in miRNA signatures whether in brain tissues or in CSF and peripheral blood. More and more studies suggest that miRNAs may play crucial roles as diagnostic biomarkers and/or as new therapeutic targets in AD. According to biomarkers, we can identify the preclinical phase early, which provides an important time window for therapeutic intervention.

Update on diagnosis and differential diagnosis of vestibular migraine.

BACKGROUND: Vestibular migraine (VM) is considered the most common cause of spontaneous episodic vertigo and the second most common cause of vertigo. However, without a biomarker or a complete understanding of the pathophysiology, VM remains underrecognized and underdiagnosed. Therefore, definite diagnostic criteria are urgently needed. Meanwhile, VM should be clearly differentiated from other similar diseases. This paper may help clinicians improve the diagnostic rate of VM and reduce the rate of misdiagnosis. A PubMed search was performed using the following terms: vestibular migraine, migraine-associated vertigo/dizziness, migraine-related vertigo, migraine-related vestibulopathy, benign recurrent vertigo, vertiginous migraine, migraine, headache, vertigo, dizziness, and diagnosis. This paper also summarizes the diagnostic criteria and differential diagnoses of VM. The diagnosis of VM is based on the symptoms, degree, frequency, and duration of the vestibular episodes, a history of migraine, and the temporal association of migraine symptoms with vestibular episodes in at least 50% of cases, while ruling out what may be due to other reasons. In addition to vestibular symptoms and migraine, transient auditory symptoms, nausea, vomiting, and susceptibility to motion sickness may also be associated with VM. Thus, VM should be differentiated from other diseases such as Meniere's disease, benign paroxysmal positional vertigo, migraine with brainstem aura, vestibular neuritis, posterior circulation ischemia, multiple lacunar infarction, vestibular paroxysmia, motion sickness, and episodic ataxia type 2. CONCLUSION: Only if the diagnostic criteria of VM and differential diagnosis can be mastered clearly, we can make a definite diagnosis and treat patients properly.

Acute-onset paraneoplastic cerebellar degeneration secondary to neuroendocrine carcinoma with atypical prognosis: a case report.

Paraneoplastic cerebellar degeneration (PCD) is a neurological syndrome that is likely caused by tumor-induced autoimmunity against the cerebellum. Neuroendocrine carcinoma (NEC) is a type of neoplasm with high-grade malignant histology and biological behavior. The prognosis for both PCD and NEC is typically poor. We report a case of PCD secondary to metastatic NEC in the lymph nodes, with an unknown primary origin. The case presented acute cerebellar manifestations with typical neuroimaging findings, but with atypical prognosis after lymph node dissection. Neurological symptoms can provide clues to potential tumors, and early antitumor treatment may have contributed to the positive prognosis of PCD secondary to NEC in the present case.

Cognitive behavior therapy for dizziness: A protocol for systematic review and meta-analysis.

OBJECTIVES: To investigate the association between cognitive behavior therapy (CBT) and dizziness. METHODS: The databases including PubMed, Embase, Cochrane Library and Web of science will be searched for randomized controlled trials. Weighted mean difference and 95% confidence interval will be utilized to calculate the effect of CBT on dizziness between the 2 groups. CONCLUSIONS: This meta-analysis will provide a high-quality synthesis from existing evidence for the relationship between CBT and dizziness. OSF REGISTRATION NUMBER: 10.17605/OSF.IO/YNH5W.

Differential value of external anal- and urethral-sphincter electromyography in multiple system atrophy cerebellar type and spinocerebellar ataxias.

OBJECTIVE: Clinically differentiating multiple system atrophy cerebellar type (MSA-C) and spinocerebellar ataxias (SCAs) is challenging, especially at early disease stages, because of their similarities in clinical manifestation and imaging results. The purpose of this study was to explore the value of external anal-sphincter electromyography (EAS-EMG) and urethral-sphincter electromyography (US-EMG) for distinguishing between MSA-C and SCAs. METHODS: A total of 51 subjects, including 33 MSA-C and 18 SCAs, were recruited. Average duration and amplitude of motor unit potentials (MUPs), percentage of polyphasic MUPs, amplitude during strong contraction and recruitment pattern during maximal voluntary contraction were recorded and analyzed to identify differential diagnostic results of EAS-EMG and US-EMG for MSA-C and SCAs. RESULTS: Significant differences in average MUP duration, percentage of polyphasic MUPs, and ratio of simple phase and simple-mix phase using EAS-EMG were noted between patients with MSA-C and SCAs. These same parameters also differed significantly between MSA-C and SCAs male patients using US-EMG. CONCLUSIONS: EAS-EMG may serve as a potential method for early differential diagnosis between patients with MSA-C and SCAs. Furthermore, US-EMG could be a supplementary method for males when EAS-EMG is not available.

Characteristics of mass lesion presentation of primary angiitis of the central nervous system: A single center 11-year retrospective case-series study.

OBJECTIVE: Mass lesion presentation of primary angiitis of the central nervous system (ML-PACNS) is a special subtype of primary central nervous system vasculitis, which is difficult to be differentiated from other space-occupying disorders. We aimed to summarize our experience and improve diagnostic techniques of ML-PACNS. PATIENTS AND METHODS: Case records for 16 patients treated in the Department of Neurology of Six Medical Center of Chinese PLA General Hospital from December 2008 to November 2019 were examined. All patients were diagnosed with ML-PACNS by pathology. Clinical manifestations, neuroimaging results and pathological features were retrospectively analyzed. RESULTS: The 16 patients with ML-PACNS in the cohort (8 males) had a median age of 32 (range 19-56 years). On T1WI and T2WI, 12 cases showed mixed signals and 4 cases showed T1WI hypointense and T2WI hyperintense. Fifteen patients showed DWI hyperintense, of which 9 cases showed hypointense in the middle of the lesion. Gadolinium enhancement of all cases was irregular. All patients had a brain biopsy (stereotactic procedure in 10 and open-wedge surgery in 6) which showed lymphocytic vasculitis in the majority of patients (15/16) and necrotizing vasculitis in one patient. CONCLUSIONS: ML-PACNS is an important differential candidate for tumefactive demyelinating lesions, CNS infections and brain tumors. Mixed T1WI and T2WI signals as well as central hypointense surrounded by hyperintense lesions on DWI may be useful imaging features for the diagnosis of ML-PACNS which has implications for those who have not yet had a biopsy. ML-PACNS may have different pathological type from PACNS.

Metagenomic Next-Generation Sequencing for Diagnosis of Infectious Encephalitis and Meningitis: A Large, Prospective Case Series of 213 Patients.

Purpose: We assessed the performance of metagenomic next-generation sequencing (mNGS) in the diagnosis of infectious encephalitis and meningitis. Methods: This was a prospective multicenter study. Cerebrospinal fluid samples from patients with viral encephalitis and/or meningitis, tuberculous meningitis, bacterial meningitis, fungal meningitis, and non-central nervous system (CNS) infections were subjected to mNGS. Results: In total, 213 patients with infectious and non-infectious CNS diseases were finally enrolled from November 2016 to May 2019; the mNGS-positive detection rate of definite CNS infections was 57.0%. At a species-specific read number (SSRN) ≥2, mNGS performance in the diagnosis of definite viral encephalitis and/or meningitis was optimal (area under the curve [AUC] = 0.659, 95% confidence interval [CI] = 0.566-0.751); the positivity rate was 42.6%. At a genus-specific read number ≥1, mNGS performance in the diagnosis of tuberculous meningitis (definite or probable) was optimal (AUC=0.619, 95% CI=0.516-0.721); the positivity rate was 27.3%. At SSRNs ≥5 or 10, the diagnostic performance was optimal for definite bacterial meningitis (AUC=0.846, 95% CI = 0.711-0.981); the sensitivity was 73.3%. The sensitivities of mNGS (at SSRN ≥2) in the diagnosis of cryptococcal meningitis and cerebral aspergillosis were 76.92 and 80%, respectively. Conclusion: mNGS of cerebrospinal fluid effectively identifies pathogens causing infectious CNS diseases. mNGS should be used in conjunction with conventional microbiological testing. Trial Registration: Chinese Clinical Trial Registry, ChiCTR1800020442.

The Treatment of Vestibular Migraine: A Narrative Review.

Vestibular migraine (VM) is one of the most debilitating chronic diseases that is currently underdiagnosed and undertreated. The treatment of VM is a dynamic and rapidly advancing area of research. New developments in this field have the potential to improve the diagnosis and provide more individualized treatments for this condition. In this review, we discussed the progress of evidence-based treatment of VM, including pharmacotherapy and nonmedical methods. A search of the literature was conducted up to September 2019. In order to control or cure VM, patients should follow three steps. First, patients should comply with diet and behavioral medication; Second, during the attack of VM, patients should take medicine to control the symptoms. These acute attack treatment of VM consists of antiemetic medications (e.g., dimenhydrinate and benzodiazepines), anti-vertigo medicine, and analgesics (e.g. triptans). Third, prophylactic medicine (e.g., propranolol, topiramate, valproic aid, lamotrigine, and flunarizine) can be used to reduce the frequency and severity of VM attack. Also, vestibular rehabilitation (VR) treatment should be considered for all VM. Meanwhile, we also propose to establish a culture of prevention which is essential for reducing the personal, social and economic burden of VM.

Correlation of 5-HTR6 gene polymorphism with vestibular migraine.

OBJECTIVE: To investigate the correlation of 5-hydroxy tryptamine receptor 6 (5-HTR6) gene polymorphism with vestibular migraine (VM). METHODS: A total of 92 VM patients were enrolled as the observation group, and 100 healthy people receiving physical examinations as the control group. Their general clinical information was collected, and the level of 5-HT in plasma and the vestibular function test indexes were detected. Moreover, the polymorphism of 5-HTR6 rs770963777 was detected with the TaqMan-MGB probe. RESULTS: The observation group had a lower level of 5-HT than the control group (P < .05), and the abnormality rates of the vestibular function tests, including the caloric test, head-shaking test, and vestibular autorotation test, were obviously higher than those in the control group (P < .01). The comparisons showed that the distribution frequencies of the genotypes and alleles were different between the two groups (P < .05). According to the analysis of the genetic mode, there were differences in recessive and additive modes between the two groups (P < .05), but the dominant mode was not different between the two groups (P > .05). CONCLUSION: The level of 5-HT and the vestibular function test indexes can serve as the effective indicators for observing VM, and the polymorphism of 5-HTR6 rs770963777 site is correlated with VM onset.

Differential Diagnosis Of Multiple-System Atrophy With Parkinson's Disease By External Anal- And Urethral-Sphincter Electromyography.

BACKGROUND: The differential diagnosis of Parkinson's disease (PD) with multiple-system atrophy (MSA) is difficult because of their similarity in symptoms and signs. The objective of this study was to investigate the value of external anal-sphincter electromyography (EAS-EMG) and urethral-sphincter electromyography (US-EMG) in differentiating MSA from PD. METHODS: A total of 201 patients, - 101 MSA and 100 PD - were recruited in this study. Average duration and amplitude of motor unit potentials (MUPs), percentage of polyphasic MUPs, amplitude during strong contractions, and recruitment patterns during maximal voluntary contractions were recorded and analyzed to assess diagnostic efficiency of EAS-EMG and US-EMG for MSA. RESULTS: Significant differences in average MUP duration and recruitment patterns during maximal voluntary contractions were found between patients with MSA and patients with PD using both EAS-EMG (P<0.001, P<0.001) and US-EMG (P<0.001, P<0.001). The percentage of polyphasic MUPs and amplitude during strong contractions showed significant differences in MSA and PD using only EAS-EMG (P<0.001, P=0.005). Cutoff points for average MUP duration in EAS-EMG and US-EMG for differential diagnosis of MSA with PD were 10.9 and 11.1 milliseconds, respectively. With average MUP duration of EAS-EMG and US-EMG being applied jointly, sensitivity and specificity in distinguishing MSA from PD were 83.2% and 71.8%, respectively. CONCLUSION: EAS-EMG and US-EMG were sensitive and specific methods for the diagnosis and differential diagnosis of MSA, and the combination of both would improve the diagnostic rate of MSA compared to only one method being used.