The neurophysiological evaluation in 60 patients with Kennedy disease / 中华神经科杂志

Objective:To study the neurophysiological features of Kennedy disease (KD) and to figure out the function of the nervous system.Methods:Subjects were recruited from the outpatient and the ward of Peking University Third Hospital from November 2010 to November 2022. Sixty patients with KD (29 patients with KD alone, 31 KD cases with the complication of diabetes mellitus) and 60 patients with diabetic polyneuropathy (DPN) were included in this study. Electrophysiological tests were performed in all subjects, including electromyogram, nerve conduction study, somaosensory evoked potential (SEP), contact heat evoked potential (CHEP) and triple stimulation technique (TST). Student′s t-tests were conducted to compare differences intra or inter groups of nerve conduction velocity and action potential of nerve conduction study, latency and interphase of SEP, initial peak latency of CHEP and other parameters. Results:Compared with the normative value, the amplitude of the sensory nerve action potential (SNAP) declined by 30%-80% in KD patients [median nerve (0.7±0.4) μV, ulnar nerve (0.8±0.3) μV, sural nerve (1.8±0.1) μV], the amplitude of the median and ulnar nerves was lower than the sural nerves ( t=2.43, P=0.010; t=2.40, P=0.010). The conduction time of peripheral segments of SEP and CHEP was prolonged by 115%-130%, while that of the central segments was prolonged by 104%-115% in SEP. TST test/TST control declined by 40%-60% in 17 patients with KD. The amplitude of SNAP declined by 30%-50% in patients with DPN [median nerve (2.9±0.5) μV, ulnar nerve (2.6±0.6) μV, sural nerve (1.6±0.2) μV], the amplitude of the sural nerves was lower than the median and ulnar nerves ( t=2.52, P=0.006; t=2.47, P=0.007). The conduction time of peripheral segments of SEP and CHEP was prolonged by 75%-112%, while that of the central segments was normal in both SEP and CHEP in DPN patients. Compared with DPN patients, the upper limb SNAP amplitude was lower in KD patients with the complication of diabetes mellitus [median nerve (0.7±0.3) μV, t=3.18, P=0.001; ulnar nerve (0.8±0.4) μV, t=3.20, P=0.001]. Conclusions:Sensory nerve is involved in patients with KD, including the large fiber and the small one. The central segments was abnormal in the deep sensory pathway, and the pyramid tract may be involved besides the anterior horn cell.

Strengthen the training and application of electromyography and clinical neurophysiological examination in the diagnosis, treatment and research of neuromuscular diseases / 中华神经科杂志

Electromyography and neurophysiological examination are not only a clinical examination technique, but also play a more and more important role in the interpretation and solution of clinical problems of neuromuscular diseases by emphasizing the correlation between clinical and neurophysiology. In order to accurately locate the lesion site, further provide pathophysiological information, and assess the severity and course of the disease, it is necessary to develop a personalized examination program according to the symptoms and signs of patients, and it is also necessary to conduct systematic standardized training for clinicians and electrophysiological practitioners.

Diabetic peripheral neuropathy / 中华神经科杂志

Diabetes peripheral neuropathy (DPN) is one of the most common complications of diabetes. It not only causes physical disability and unbearable pain, but also may lead to emotional and psychological problems, reduce the quality of life of patients, and increase mortality. Although early diagnosis of diabetes may improve the clinical prognosis, the occurrence of DPN is sometimes unavoidable and the treatment is limited. This article summarizes the clinical features, diagnosis, investigations and treatment of DPN by reviewing the latest literature.

Application of muscle ultrasound in amyotrophic lateral sclerosis / 中华神经科杂志

Amyotrophic lateral sclerosis (ALS) is one of the fatal neurodegenerative diseases. Muscle ultrasound can be used in ALS to make early diagnosis, strengthen disease management and differentiate other neuromuscular diseases from it. In ALS patients, morphological changes such as muscle atrophy, increased echo intensity and fasciculation can be detected by muscle ultrasound which is helpful in assessing respiratory and swallowing functions as well. High frequency ultrasound has the clinical value in the diagnosis, monitoring and prognosis evaluation of ALS patients.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome with replication factor C subunit 1 gene mutation: a case report and literature review / 中华神经科杂志

Objective:To investigate the clinical and genetic characteristics of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with replication factor C subunit 1 (RFC1) gene mutation to improve the understanding of this disease.Methods:A case of CANVAS diagnosed in the Peking University Third Hospital in January 2021 was reported. Detailed genetic analyses of ataxia were performed with DNA extracted from the peripheral blood of the patient. Studies including pathogenic variants of RFC1 gene causing CANVAS were reviewed and the clinical and genetic characteristics of the disease were summarized.Results:The patient was a 51-year-old female with the prominent manifestation of progressive walking instability. And the clinical data met the diagnostic criteria of CANVAS. The genetic tests excluded other hereditary ataxia mutations and identified the biallelic expansion of the pathogenic variant structure (AAGGG)exp repeat amplification in RFC1 gene. A total of 14 studies on CANVAS with RFC1 gene mutation were reviewed. The overall mutation rate of RFC1 gene in CANVAS was 68%-100%, and it varied in sporadic and familial CANVAS. And the mutation had ethnic differences.Conclusions:Among adult patients with late-onset ataxia, the combination of brain magnetic resonance imaging, electrophysiology tests and vestibular function examination is beneficial to the identification of CANVAS. And the genetic test of RFC1 gene has significant value in the diagnosis of this disease. This patient with CANVAS expands the disease spectrum of ataxia in China, and confirms that RFC1 gene mutation is of great significance in the screening of ataxia disorders in the Chinese population.

The genetic distribution in Chinese patients with Charcot-Marie-Tooth diseases: a 14-year cohort study / 中华神经科杂志

Objective:To investigate the genetic distribution of pathogenic genes of Charcot-Marie-Tooth diseases (CMT) in Chinese Han population, and compare the similarity and difference with the data in Peking University Third Hospital in 2013.Methods:Five hundred and twenty families with CMT and related diseases in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to March 2021 were collected. After peripheral myelin protein 22 (PMP22) gene duplication and deletion mutations were initially detected by multiple ligation probe amplification, the probands of these families were sequenced by next-generation sequencing (NGS) gene panel or whole exome sequencing, and validated by Sanger sequencing.Results:Among the 520 families, 336 CMT families were genetically confirmed, and the mutation detection rate increased from 48.6% (51/105) in 2013 to 64.6% (336/520) in 2021 (χ 2=9.54, P=0.003). Among them, 139 families had PMP22 gene duplication mutation (139/520, 26.7%), 46 families had gap junction beta-1 (GJB1) gene mutation (46/520, 8.8%), 26 families had mitofusin-2 (MFN2) gene mutation (26/520, 5.0%), 12 families had myelin protein zero (MPZ) gene mutation (12/520, 2.3%), 11 families had PMP22 gene point mutation (11/520, 2.1%), and 10 families had heat shock protein B1 gene mutation (10/520, 1.9%). There were 10 families with ganglioside induced differentiation associated protein 1 (GDAP1) gene mutation (10/520, 1.9%), 8 families with SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene mutation (8/520, 1.5%), 7 families with immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene mutation (7/520, 1.3%), 6 families with MORC family CW-type zinc finger 2 (MORC2) gene mutation (6/520, 1.2%), 5 families with sorbitol dehydrogenase (SORD) gene mutation (5/520, 1.0%), 16 families with very rare gene mutation (16/520, 3.1%) and 184 families without genetic diagnosis (184/520, 35.4%). Conclusions:Compared with the results in 2013, the 3 most common genes affecting CMT were still PMP22, GJB1 and MFN2 genes, but the proportion difference of patients with MPZ gene mutation gradually decreased with other genes such as SH3TC2 and GDAP1 genes. The proportion of newly discovered CMT genes, such as MORC2 and SORD genes, was similar with IGHMBP2 gene, which should be paid more attention. NGS greatly improved the detection rate of CMT, especially for patients with autosomal recessive-CMT.

Corneal confocal microscopy detects small-fiber neuropathy in patients with amyotrophic lateral sclerosis / 中华内科杂志

Objective:To investigate small fiber neuropathy in patients with amyotrophic lateral sclerosis (ALS) by corneal confocal microscopy.Methods:A total of 57 ALS patients were consecutively enrolled in Department of Neurology between June 2015 and February 2016, including 37 men and 20 women with mean age 24-80 (52±11)?years. There were 30 controls including 21 men and 9 women with mean age 23-76 (55±13) years. All subjects underwent corneal confocal microscopy (CCM), contact heat evoked potential (CHEP) and skin sympathetic reflection (SSR) to quantify small nerve fiber pathology. Four parameters, such as nerve fiber length (NFL), nerve branch density (NBD), nerve fiber density (NFD) and nerve fiber tortuosity (NFT) were assessed by corneal confocal microscopy. All statistical calculations were conducted using SPSS version 12.0.Results:Compared with control group, corneal nerve fiber length (NFL),nerve fiber density (NFD) were significantly decreased [(12.2±4.4)mm/mm 2 vs.(15.1±4.5) mm/mm 2, P=0.028;(50.8±24.0)/mm 2 vs. (68.3±16.4)/mm 2, P=0.002],and nerve fiber tortuosity (NFT) were significantly increased [(2.6±1.0)level vs.(1.0±0.5)level, P<0.01)] in SFN group, while nerve branch density (NBD) were comparable ( P=0.700).The course of disease is correlated with NFT ( r=0.25, P=0.030). Conclusions:CCM is a new sensitive noninvasive clinical technique that detects early small fiber nerve damage in patients with ALS.

Research progress on chemical constituents and pharmacological activities of Blumea balsamifera / 中国药房

Blumea balsamifera belonging to Blumea of Compositae family is a perennial herb or subshrub ，which is the only source of Traditional Chinese medicine Aipian and ethnic medicine essential oil of B. balsamifera . B. balsamifera contains volatile oil，flavonoids，sesquiterpenoids，phenylpropanoids，etc.，and shows antibacterial ，anti-inflammatory，analgesic，treating burns and scalds，neuroprotective and antioxidant effects ，etc. In this paper ，the chemical constituents and pharmacological activities are summarized by reviewing the domestic and foreign research literatures ，and it is expected to provide a reference for the in-depth research and development and utilization of B. balsamifera .

Experience in the application of multimedia courseware combined with network teaching mode in the standardized residency training of neurology / 中华医学教育探索杂志

In order to improve the learning enthusiasm and initiative of residents, researchers developed the multimedia courseware combined with network teaching mode after repeated exploration and practice. The relevant knowledge of neurology was arranged into several topics, a series of multimedia courseware were formulated, and recorded courses and live courses were made. Through the practice, this new teaching mode has won unanimous praise from residents for its high efficiency, easy operation and flexibility.

Discontinuation Rate of Newly Prescribed Donepezil in Alzheimer’s Disease Patients in Asia

Background@#and Purpose The rate of donepezil discontinuation and the underlying reasons for discontinuation in Asian patients with Alzheimer’s disease (AD) are currently unknown. We aimed to determine the treatment discontinuation rates in AD patients who had newly been prescribed donepezil in routine clinical practice in Asia. @*Methods@#This 1-year observational study involved 38 institutions in seven Asian countries, and it evaluated 398 participants aged 50–90 years with a diagnosis of probable AD and on newly prescribed donepezil monotherapy. The primary endpoint was the rate of donepezil discontinuation over 1 year. Secondary endpoints included the reason for discontinuation,treatment duration, changes in cognitive function over the 1-year study period, and compliance as assessed using a clinician rating scale (CRS) and visual analog scale (VAS). @*Results@#Donepezil was discontinued in 83 (20.9%) patients, most commonly due to an adverse event (43.4%). The mean treatment duration was 103.67 days in patients who discontinued. Among patients whose cognitive function was assessed at baseline and 1 year, there were no significant changes in scores on the Mini-Mental State Examination, Montreal Cognitive Assessment, and Trail-Making Test–Black and White scores, whereas the Clinical Dementia Rating score increased significantly (p<0.001). Treatment compliance at 1 year was 96.8% (306/316) on the CRS and 92.6±14.1% (mean±standard deviation) on the VAS. @*Conclusions@#In patients on newly prescribed donepezil, the primary reason for discontinuation was an adverse event. Cognitive assessments revealed no significant worsening at 1 year, indicating that continuous donepezil treatment contributes to the maintenance of cognitive function.

Establishment and Analysis of the Fingerprints of Adiantum capillusveneris from Different Producing Areas and Content Determination of Its Differential Components / 中国药房

OBJECTIVE：To establish the fingerprint of Adiantum capillusveneris from different producing areas ，and to conduct chemometric analysis and content determination of differential components ，so as to provide reference for quality control of A. capillusveneris . METHODS ：HPLC-DAD combined with Similarity Evaluation System of TCM Chromatogramtic Fingerprint （2004 A edition ）were used to establish fingerprint of 19 batches of A. capillusveneris from different producing areas （S1-S19）. Common peaks were confirmed and their similarities were evaluated. Chemometric analysis methods such as cluster analysis ， principle component analysis （PCA），orthogonal partial least squares discriminant analysis （OPLS-DA）were used to evaluate the quality of 19 batches of A. capillusveneris from different producing areas ，screen the differential components ，and determine the contents of some differential components. RESULTS ：Among 19 batches of A. capillusveneris from different producing areas ，22 common peaks were confirmed ；peak 9 was chlorogenic acid ，peak 17 was quercetin- 3-O-β-D-glucopyranoside，peak 20 was kaempferol-3-O-rutoside；the similarity of 19 batches of sample were 0.677-0.962. Through cluster analysis ，it was found that S 7 and S 10 were clustered into one category ；S15 and S 18 were clustered into one category ；and S 1-S6，S8，S9，S11-S14，S16，S17 and S 19 were clustered into one category. PCA and OPLS-DA found that S 7 and S 10 were clustered into one category ；S15 were clustered into one category ；S18 were clustered into one category ；S1-S6，S8，S9，S11-S14，S16，S17 and S 19 were clustered into one category. Chlorogenic acid ，quercetin-3-O-β-D-glucopyranoside，kaempferol-3-O-rutoside and chemical composition represented by peak 14 were the differential components of the〔2017〕2841）； medicinal material. Among 19 batches of A. capillusveneris ， average contents of chlorogenic acid and quercetin- 3-O-β-D- glucopyranoside and kaempferol- 3-O-rutoside were 0.10-4.25， 0.31-7.11，0.61-12.00 mg/g，respectively. CONCLUSIONS ： 电话：0851-86614212。 HPLC-DAD fingerprints of A. capillusveneris from different producing areas are establishe d in the study ，and three common peaks are identified. Four differential components affecting the quality of A. capillusveneris are screened ， and the contents of chlorogenic acid ， quercetin-3-O-β-D-glucopyranoside and kaempferol-3-O-rutoside in A. capillusveneris from different producing areas were significantly different.

Symptoms and causes of insomnia in amyotrophic lateral sclerosis / 中华神经科杂志

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease characterized by progressive loss of upper and lower motor neuron. Insomnia is one of the widespread but underappreciated non-motor symptoms in ALS patients, which may not only seriously affect patients′ quality of life, but also reflect the lesions of central nervous system in ALS. This review summarizes the insomnia symptoms reported in current ALS studies, and summarizes the somatic factors and central nervous system changes associated with insomnia in ALS patients, so as to provide ideas for the development of effective intervention measures and future research.

Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis / 南方医科大学学报

OBJECTIVE@#To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS).@*METHODS@#We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS.@*RESULTS@#We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10@*CONCLUSIONS@#Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.

Progress on the correlation between amyotrophic lateral sclerosis and gut microbiota / 中华神经科杂志

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that mainly affects upper and lower motor neurons. The etiology of ALS has not been fully understood, and it is believed that the interaction of genes, aging and the environment can contribute to its pathogenesis. The gut microbiota of human body plays an important role in substance metabolism, food digestion and nutrient absorption. The diversity and stability of gut microbiota play an important role in maintaining the health of the elderly population. Diverse and healthy gut microbiota can prevent the occurrence of neurodegenerative diseases. The change of gut microbiota may lead to the onset and progression of ALS, and its mechanism may include the destruction of intestinal barrier, the production of toxins, the induction of inflammatory response, and metabolic disorders. Therapies based on gut microbiota may provide new ideas for the treatment of ALS.

Discontinuation Rate of Newly Prescribed Donepezil in Alzheimer’s Disease Patients in Asia

Background@#and Purpose The rate of donepezil discontinuation and the underlying reasons for discontinuation in Asian patients with Alzheimer’s disease (AD) are currently unknown. We aimed to determine the treatment discontinuation rates in AD patients who had newly been prescribed donepezil in routine clinical practice in Asia. @*Methods@#This 1-year observational study involved 38 institutions in seven Asian countries, and it evaluated 398 participants aged 50–90 years with a diagnosis of probable AD and on newly prescribed donepezil monotherapy. The primary endpoint was the rate of donepezil discontinuation over 1 year. Secondary endpoints included the reason for discontinuation,treatment duration, changes in cognitive function over the 1-year study period, and compliance as assessed using a clinician rating scale (CRS) and visual analog scale (VAS). @*Results@#Donepezil was discontinued in 83 (20.9%) patients, most commonly due to an adverse event (43.4%). The mean treatment duration was 103.67 days in patients who discontinued. Among patients whose cognitive function was assessed at baseline and 1 year, there were no significant changes in scores on the Mini-Mental State Examination, Montreal Cognitive Assessment, and Trail-Making Test–Black and White scores, whereas the Clinical Dementia Rating score increased significantly (p<0.001). Treatment compliance at 1 year was 96.8% (306/316) on the CRS and 92.6±14.1% (mean±standard deviation) on the VAS. @*Conclusions@#In patients on newly prescribed donepezil, the primary reason for discontinuation was an adverse event. Cognitive assessments revealed no significant worsening at 1 year, indicating that continuous donepezil treatment contributes to the maintenance of cognitive function.

Comorbidity of amyotrophic lateral sclerosis and progressive supranuclear palsy: a case report and literature review / 中华神经科杂志

The co-existence of different neurodegenerative diseases in the same case has received increasing attention and reports. A rare comorbidity of amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP) in a sporadic patient was reported. The patient presented with pseudobulbar palsy, freezing gait, and developed muscle weakness and fasciculation. Brain magnetic resonance imaging, positron emission computed tomography and whole exomesequencing showed no evident abnormality. The patient had no response towards the treatment of levodopa, and received supportive treatment and gastrostomy. He is in stable condition by now. Totally 23 cases of ALS with PSP were reviewed, and found that the clinical manifestations were related to the main distribution of pathological inclusion bodies and the location of neuron loss, and the deposition of the same pathological protein in multiple systems may lead to the coexistence of different neurodegenerative diseases. Traditional treatment is generally ineffective, thus support treatment is pivotal. The genetic background and pathogenesis of this comorbidity should be studied in the future.

Summary of the 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease / 中华神经科杂志

The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,

Summary of the Twenty-ninth International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease / 中华神经科杂志

The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)-Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.

Operative treatment of Sneppen Ⅴ talus fracture through approach for malleolus medialis Ⅴ osteotomy plus hollow compression screw fixation / 中华创伤骨科杂志

Objective@#To report the effects of operative treatment of Sneppen Ⅴ talus fracture through the approach for malleolus medialis Ⅴ osteotomy plus hollow compression screw fixation.@*Methods@#From January 2015 to January 2019, 16 patients with Sneppen Ⅴ talus fracture were treated at Department Ⅱ of Hand & Foot Microsurgery, The Second Affiliated Hospital to Inner Mongolia Medical University. They were 14 men and 2 women with a mean age of 38.4 years (range, from 20 to 55 years). All fractures were fixed with hollow compression screws through the approach for malleolus medialis Ⅴ osteotomy. The ankle and hindfoot functional scoring system developed by American Orthopaedic Foot and Ankle Society (AOFAS) was used to evaluate the clinical outcomes.@*Results@#All patients were followed up for a mean time of 12.6 months (range, from 6 to 30 months). The mean operation time was 68.4 minutes (range, from 52 to 96 minutes); the mean amount of hemorrhage during operation was 96.8 mL (range, from 48 to 122 mL); the mean period of bone union was 4.8 months (range, from 3 to 8 months). The postoperative mean AOFAS score was 75.3 points (range, from 43 to 91 points). Complications occurred in 4 cases, including one case of talus ischemic necrosis, one case of partial talus ischemic necrosis accompanied by tibial arthritis, one case of subtalar arthritis, and one case of combined tibial, talar and subtalar arthritis. All incisions obtained primary healing, with no complications like infection, screw breakage, delayed union or nonunion.@*Conclusion@#Operative treatment of Sneppen Ⅴ talus fracture through the approach for malleolus medialis Ⅴ osteotomy plus hollow compression screw fixation can provide sufficient operative exposure to facilitate reduction and fixation of the talus fracture so that the ischemic necrosis of the talus and traumatic arthritis can be effectively reduced.

Summary of the Twenty?ninth International Symposium on Amyotrophic Lateral Sclerosis?Motor Neuron Disease / 中华神经科杂志

The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)?Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.