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Objective:To determine whether there is a correlation between the cross-sectional area (CSA) and the parameters as measured on nerve conduction studies.Methods:Twenty-one patients with neuromuscular diseases in Beijing Tiantan Hospital from March 3, 2022 to May 4, 2023 underwent ultrasound measurement of the CSA of the median nerves and ulnar nerves at the wrist, elbow and the upper arm, followed by nerve conduction studies (NCS). A linear regression model was performed to compare NCS and CSA.Results:A total of 180 sets of motor nerve conduction velocity (MCV) and CSA at the different sites including 102 sets of median nerve and 78 sets of ulnar nerve, 220 sets of compound muscle action potential (CMAP) amplitude and CSA at the different sites including 104 sets of median nerve and 116 sets of ulnar nerve, 60 sets of sensory nerve conduction velocity (SCV) and CSA and sensory nerve action potential (SNAP) amplitude and CSA at the wrist including 32 sets of median nerve and 28 sets of ulnar nerve were recorded. The linear correlation between MCV and CSA was statistically significant both in median nerve ( r2=0.10,adjusted r2=0.09, P=0.001) and in ulnar nerve ( r2=0.18,adjusted r2=0.17, P<0.001).When CSA>10 mm 2, the linear correlation between CMAP amplitude and CSA was statistically significant both in median nerve ( r2=0.09,adjusted r2=0.08, P=0.024) and ulnar nerve ( r2=0.19,adjusted r2=0.17, P=0.004). The correlation between CMAP and CSA was not statistically significant when CSA≤10 mm 2. And the correlations between SCV and CSA and between SNAP and CSA were not statistically significant. Conclusions:CSA can better show the characteristics of changes in motor nerve conduction especially in motor conduction velocity. It is suggested that its application prospect in demyelinating peripheral neuropathy with motor nerve damage may be more extensive.
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CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary small vessel disease originated from adult onset, which is caused by the mutation of NOTCH3 gene located in the region of chromosome 19p13. Its clinical features include recurrent ischemic stroke, progressive cognitive impairment, migraine and mental disorders. Recent studies have shown that the mutations in the EGFr region of NOTCH3 gene are associated with the course, clinical manifestations and imaging features of CADASIL. This article reviews the research progress of the NOTCH3 gene EGFr region mutation genotype, clinical phenotype of CADASIL and their correlation, hoping to provide ideas for the early diagnosis and pathogenesis of CADASIL.
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Objective:To investigate the electrophysiological features of patients with anti-neurofascin 155 (NF155) IgG4 antibodies positive chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).Methods:The electrophysiological data of 6 anti-NF155 IgG4 antibodies positive CIDP patients in Beijing Tiantan Hospital, Capital Medical University from September 2018 to May 2021 were retrospectively analyzed. Parameters studies included standard motor and sensory nerve conduction studies, electromyography (EMG) and F waves studies. Correlation analysis was made to explore the relationships between clinical indicators and electrophysiological data.Results:There was statistically significant difference in the motor nerve conduction study on abnormal rate of tibial nerve (χ 2=11.08, P=0.011). Motor nerve conduction abnormalities were presented in a majority of patients with decreased motor conduction velocity (MCV) and prolonged distal motor latency (DML). There was no statistically significant difference in the overall abnormal rate between lower limbs and upper limbs (30/32, 93.8% vs 22/22, 100.0%; χ 2=1.43, P=0.508), sensory nerve conduction and motor nerve conduction (52/54, 96.3% vs 42/42, 100.0%; χ 2=1.59, P=0.503). There was statistically significant difference in the overall abnormal rate in median nerve, ulnar nerve and sural nerve (χ 2=14.96, P=0.001;χ 2=10.00, P=0.007; χ 2=9.95, P=0.008),and absent sensory nerve action potential was the most common abnormality in sensory nerve conduction abnormalities. The abnormal rate of EMG was 9/14, which was constituted by upper limbs (4/8) and lower limbs (5/6), and the spontaneous activity accompanied with prolonged duration and increased amplitude of motor unit action potential was common. Significant negative correlations were established between disease duration and compound muscle action potential (CMAP) amplitude and negative area of ulnar nerve ( r=-0.84, P=0.036; r =-0.76, P=0.011), and the correlations between age and MCV of median nerve and ulnar nerve were also found ( r=0.89, P=0.019; r=0.95, P=0.003). The DML of median nerve was negatively correlated with CMAP amplitude ( r=-0.63, P=0.049). Moreover, the correlation analysis revealed associations of the F wave latency with the DML, CMAP amplitude and MCV of tibial nerve ( r= 0.90, P=0.039; r=-0.96, P=0.012; r=-0.96, P=0.010). Conclusions:The motor nerve and sensory nerve, the myelin sheath and axon of peripheral nerves in anti-NF155 IgG4 CIDP patients were largely affected. The CMAP amplitude and negative area of ulnar nerve might be of certain clinical value in reflecting the disease duration.The younger the patients, the more severe the demyelination degree of the upper limbs. The F wave latency of tibial nerve not only reflected the abnormal proximal conduction, but also the distal damage degree of myelin sheath and axon.
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Objective Adrenoleukodystrophy (ALD) is the most common peroxisomal diseases with high clinical and genetic heterogeneity. Our study is to analyze the phenotype and genotype characteristics of adult patients with ALD. Methods A total of 18 adult patients with ALD admitted to Beijing Tiantan Hospital from May 2016 to April 2021 were recruited, and their clinical manifestations, imaging features, and genetic results were comprehensively analyzed. Results Among 18 patients, 6(33%) patients were diagnosed as adrenomyeloneuropathy (AMN), 2(11%) were cerebral AMN, 5(28%) were adult cerebral ALD (ACALD), 2(11%) were childhood cerebral ALD (CCALD), 1(6%) were adolescent cerebral ALD (AdolALD), and 2(11%) were cerebellar variant of ALD. AMN patients presented with adult-onset stiffness and weakness of lower limbs as the initial and main symptoms, and can developed additional cerebral demyelination; In the case of cerebral ALD, ACALD is more common than CCALD and AdolALD. The prominent manifestations were psychiatric disorders, cognitive, and motor impairment. The imaging features were predominantly occipitoparietal involvement or predominantly frontal involvement with or without contrast enhancement marginal to the demyelinated areas; cerebellar ataxia is the main manifestation in patients with cerebellar variant, and the imaging feature was symmetrical involvement of the cerebellar dentate nucleus. Genetically, the most common mutation type was missense mutation (10/18, 55.6%), followed by frameshift mutation (7/18, 38.9%), and splice site mutation (1/18, 5.6%). Moreover, we found five novo mutations, all of which were frameshift mutations. Conclusions AMN is the most common subtype of adult patients with ALD. ACALD is common among the cerebral ALD. The proportion of cerebellar variant might have been underestimated.
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Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.
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Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.
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Objective:To identify anti-dipeptidyl-peptidase-like protein 6 (DPPX) antibody in patients with encephalitis of unknown etiology and describe the clinical features of anti-DPPX antibody-associated encephalitis in Chinese patients.Methods:For patients registered in the Peking Union Medical College Hospital Encephalitis and Paraneoplastic Syndrome Registration Project from 2016 to 2019 with negative findings in autoimmune encephalitis routine antibody profile and paraneoplastic antibody profile, but with positive tissue-based assay (TBA) results, further tests for rare antibodies, including cell-based assay (CBA) of anti-DPPX antibody, were performed. Patients positive for anti-DPPX antibody were enrolled and the clinical data were collected.Results:Two patients with anti-DPPX antibody-associated encephalitis were found from 2016 to 2019 among about 15 000 patients. Both were females, aged 46 and 75 years. One patient had diarrhea, cachexia, cognitive dysfunction, agitation, myoclonus, tremor, and seizures. The other had cognitive impairment, restlessness, memory loss, disorientation, and sleep disturbance. The second patient had medical history of systemic lupus erythematosus and secondary Sj?gren′s syndrome.Conclusions:TBA should be combined with CBA in identification of anti-DPPX antibody to confirm the diagnosis. Anti-DPPX antibody-associated encephalitis has clinical manifestations of encephalopathy with diarrhea and cachexia, and can coexist with systemic lupus erythematosus.
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Objective To optimize the method to elicit the facial nerve F wave and to establish its reference values and its related parameters, in order to provide an electrophysiological basis for facial nerve assessment in patients with hemifacial spasm (HFS). Methods Thirty-six healthy volunteers and 22 patients with HFS underwent this project. Compound muscle action potentials (CAMP, or M waves) and F waves were elicited by stimulating the marginal mandibular branch of the facial nerve and recorded with needle electrodes placed in the mentalis muscle. The association between F parameters and Cohen Grading of the HFS patients were analyzed. Results There were no significant differences in F parameters between men and women or between the two sides in control subjects. Minimal latency of F wave (Fmin) and mean latency of F wave (Fmean) had positive correlations with head circumference (Fmin r=0.449, P=0.013; Fmean r=0.391, P=0.033), but had no correlations with age nor height. Patients with HFS had prolonged duration of F wave (Fdura) in spasm side, compared with normal side (13.1 ms vs. 9.5 ms, P<0.01) and healthy subjects (13.1 ms vs. 9.7 ms, P<0.001), and increased ratio of F-wave amplitude and M-wave amplitude (F/M) in spasm side, compared with normal side (6.9% vs. 3.8%, P<0.001) and healthy subjects (6.9% vs. 3.7%, P<0.001). F/M exhibited a positive correlation with Cohen Grading (r=0.538, P=0.001). Conclusion A clear facial nerve F wave can be achieved by stimulating the marginal mandibular branch of the facial nerve, which provides an objective basis for evaluation of the facial nerve function in HFS patients with increased F/M and prolonged Fdura.
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Objective@#To investigate the ultrastructural features of muscle in patients with mitochondrial encephalomyopathy for its diagnosis and differential diagnosis.@*Methods@#The clinical data of 27 mitochondrial encephalomyopathy patients who underwent left or right biceps brachii muscle biopsy at Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University from July 2006 to August 2017 were analyzed retrospectively. The muscle biopsy specimens were examined underlight microscope and transmission electron microscope.@*Results@#There were 27 patients (17 males, 10 females) with an age range of 12 to 62 years (mean 29 years). The age of onset ranged from 3 to 38 years. The course of disease ranged from 1 month to 24 years. Twenty-two cases presented with lactic acidosis and stroke-like episodes (MELAS) syndrome, four with myoclonic epilepsy with ragged red fibers (MERRF) syndrome, and one with chronic progressive paralysis of extraocular muscle (CPEO) syndrome. Skeletal muscle biopsy showed abundant ragged red fibers and strongly SDH-reactive vessel. Genetic studies showed 17 of 22 cases of MELAS syndrome had A3243G mutation, and the other 5 cases had no abnormality. A8344G mutation was found in 3 of 4 cases of MERRF syndrome. No single or multiple mtDNA mutations were found in the single case of CPEO. Transmission electron microscopy of all 27 cases showed diffuse proliferation of mitochondria between the myofibrils and beneath the sarcolemma, with increased spacing between muscle cells. Seven cases showed numerous glycogen and four showed subsarcolemmal lipid droplets, 13 cases showed unusual mitochondrial morphology, including mitochondrial electron-dense substances and paracrystal line inclusions ("parking lot" change)in eight cases.@*Conclusions@#Transmission electron microscopy shows significant differences in ultrastructural pathological changes among different patients with mitochondrial encephalomyopathy. Some patients with mild clinical symptoms have increased mitochondrial number, increased metabolism of glycogen and lipid droplets, while others with severe clinical symptoms have abnormal mitochondrial morphology. Typical crystalloid inclusions are found in mitochondria, which are of great value in the diagnosis of this disease.
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Objective To investigate the diagnostic value of spontaneous activities in genioglossus of amyotrophic lateral sclerosis (ALS).Methods A retrospective analysis of 79 patients diagnosed with ALS from January 2014 to December 2015 in Beijing Tiantan Hospital Affiliated to Capital Medical University was made.The patients were divided into two groups according to the clinical examination:with (44 patients) or without bulbar symptoms (35 patients).The course of disease,spontaneous potentials and ALS-Functional Rating Scale (ALS-FRS) scores were discussed,together with the association between semi-quantitative evaluation of spontaneous potential of the genioglossus and ALS-FRS score.Results In ALS patients,the overall positive rate of glossal spontaneous potentials was 69.6％ (55/79),among which the positive rate was 82.9％ (29/35) in patients with bulbar symptoms and 59.1％ (26/44) in patients without bulbar symptoms,with statistically significant differences between the two groups (x2=5.206,P＜0.05).While the positive rate in sternocleidomastoid was only 13.9％ (11/79),and there was no statistically significant difference between patients with or without bulbar symptoms.Semi-quantitative evaluation of fibrillation potentials in genioglossus muscle was correlated with ALS-FRS score (r=-0.258,P＜0.05).Conclusion Compared with sternocleidomastoid muscle,genioglossus muscle has a higher positive rate of spontaneous potentials and a higher diagnostic value in patients with subclinical bulbar symptoms.
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The clinical, pathological features and diagnostic methods of one case of adult-onset neuronal intranuclear inclusion disease (NIID) were analyzed. The patient was 61-year-old female presented with progressive cognitive impairment, episodic unconsciousness, stroke-like attack and paroxysmal digestive tract symptoms. Diffusion-weighted images showed high signals at the cerebral cortico-medullary junction with lace-type distribution, which persisted. Skin biopsy revealed intranuclear inclusion bodies in adipocytes, fibroblasts, and sweat gland cells. This case suggests that adult neuronal nuclear inclusion disease is a chronically progressive neurodegenerative disease with a highly clinical heterogeneity. The subcortical lace sign and eosinophilic intranuclear inclusion bodies by skin biopsy contribute to the diagnosis.
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Neuromuscular diseases is one of the difficulties in neurology teaching and clinical practice. We chose the typical cases of Guillain-Barre syndrome and progressive muscular dystrophy as case based study, and evaluated the effect of teaching. The result shows that application of case base study can help medical students to enhance their learning interests and cultivate their good clinical thinking and then to meet the requirements of the teaching syllabus. So it is worth improving and promoting in clinical practice teaching.
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Objective To report the clinical,electrophysiological and genetic features in a family with Charcot-Marie-Tooth disease type 1D (CMT1 D).Methods The proband,a 53-year-old man who was found with pes cavus when he was 15 years old,presented with weakness in both lower limbs at the age of 37,aggravated and numbness in legs at the age of 50.His daughter was confirmed pes cavus in her teens and weakness in both lower limbs at the age of 18.Electrophysiology and next generation sequencing were performed in the proband.Results Electrophysiological results of the proband showed demyelinating change in motor and sensory nerves.Latency prolongation was found in bilateral waves Ⅲ,V and abnormal differentiation in bilateral waves Ⅰ of brainstem auditory evoked potential,while both interpeak latencics of Ⅲ-Ⅴ were normal.DNA analysis revealed a heterozygous 1141C ＞ T mutation in exon 1 of early growth response 2 (EGR2) gene in both of the proband and his daughter.Conclusions The onset age of Arg381Cys mutation in EGR2 gene could be at juvenile with weakness in both lower limbs.The phenotype of CMT1D is mild and progressive slowly.
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Objective To evaluate the diagnostic accuracy of diffusion tensor imaging (DTI) of corticospinal tract in amyotrophic lateral sclerosis (ALS) and find optimal testing strategies and optimal cutoff values of DTI indices for individual patient discrimination.Methods Thirty-three ALS patients and 34 healthy controls,collected at Peking Union Medical College Hospital from June 2004 through July 2005,undergoing brain DTI studies and fractional anisotropy (FA) examinations along the corticospinal tract,were analyzed by receiver operating characteristic (ROC) curves.Results Compared with the controls,ALS group had significantly decreased FA values in subcortical white matter of the precentral gyrus,the posterior limb of the internal capsule and the cerebral peduncle.In ROC analysis,the average FA value of the former two positions showed the best performance with an area under the curve of 0.917,an optimal cut-off value of 0.604,a sensitivity of 0.759 and a specificity of 0.912.The corresponding data for the average FA of all the three positions and each single position were listed as follows:average of three 0.914,0.648,0.759,0.912; precentral gyrus 0.875,0.509,0.733,0.824; internal capsule 0.845,0.692,0.656,0.941 ; and cerebral peduncle 0.752,0.742,0.656,0.735.Conclusions FA values of the corticospinal tract have a good accuracy in detecting upper motor neuron involvement in ALS.Precentral gyrus and posterior limb of the internal capsule and the average FA values of these two positions were suggested as the preferred testing places and DTI indices for clinical use.
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@#Objective To explore the various types of progressive myoclonus epilepsy seizure characteristics, diagnostic strategies, and pathological features.Methods12 cases of progressive myoclonus epilepsy were analyzed with the clinical characteristics, the routine laboratory examinations, the pathological examination by light and electron microscopy to extra cranial.Results12 cases carried out routine examinations, neural electrophysiological examinations and physical examinations. The result showed that there 5 patients diagnosed with Neuronal Ceroid Lipofuscinoses, 5 patients with MERRF, 1 patient with Lafora Disease, 1 patient with Unverricht-Lundborg disease.ConclusionProgressive myoclonus epilepsy is a group of rare myoclonus epilepsy syndrome. It can be early diagnosed and properly classified with detailed medical history, characteristics of the EEG, and physical examination of extra cranial tissue, especially electron microscopy examination.
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Objective To explore the clinical and electrophysiological characteristics of diabetic lumbosacral radiculoplexus neuropathy (DLRPN). Methods The clinical, electrophysiological and neuroimaging changes in 15 cases of DLRPN were investigated. Results The major clinical manifestations of 13 cases were unilateral or asymmetrical pain and progressive muscular weakness and atrophy of the proximal lower limb. The nerve conduction studies in affected nerves showed absent or reduced compound muscle action potential amplitudes and sensory responses with proportionate slowing of the conduction velocities. F waves and H reflexes were of long latencies or absent. Electromyography of affected muscles showed positive sharp waves and fibrillation potentials involving lumbar paraspinal muscles. Assessment of the motor unit action potentials (MUAPs) revealed high amplitude, long duration, and polyphasic MUAPs with reduced recruitment 50% cases have much lower R-R interval variation. Conclusions DLRPN presents disabling pain and muscular weakness and elctrophysiological examination has a paramount value in the diagnosis and evaluation of this disease
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@# Objective To evaluate the significance of molecular microenvironment in neurons for the nerve regeneration and repair by investigating the dynamic changes of nerve regrowth-associated proteins following bilateral sciatic nerves crush in pyridoxine-induced ganglionopathy rats model.Methods Bilateral sciatic nerve crush were performed 4 weeks after induction of pyridoxine-induced ganglionopathy. The changes of mean percentage of TUNEL positive cells in dorsal root ganglion (DRG) following bilateral sciatic nerves crush for 7 days, 14 days, 21 days, and 28 days. Western blotting techniques were used to investigate the expression of GAP-43 and trk A in different duration following sciatic nerve crush injury.Results The percentage of TUNEL positive neurons in DRG significantly increased in early stage and markedly decreased in 21～28 days after sciatic nerve crush. The expression of GAP-43 and trk A in DRG were upregulated at all time point after nerve injury in pyridoxine-induced ganglionopathy, but the overall level was lower than that of pure nerve crush injury.Conclusion In pyridoxine-induced ganglionopathy, neurons in DRG undergo survival crisis, the gene expression system was disintegrated, the capacity to regenerate their axons declines after nerve injury.
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Objective To explore the characteristic of the expression of Ref 1 protein in different intervals following permanent focal cerebral ischemia in rats. Methods The model of the middle cerebral artery occlusion (MCAO) in rats was performed with the intraluminal filament occlusion The rat brains were cut in the coronal planes at the levels of the caudate putamen as the templates The immunohistochemistry staining was used to facilitate the observation of the distribution and quantities of Ref 1 protein expression in the brain tissues following the normal control group,sham operation group and the permanent MCAO group with intervals of 1, 6, 12, 24 h, and 48 h, respectively. Results Immunohistochemistry showed the nuclear expression of Ref 1 protein in the normal control group, sham operation group and left cerebral hemisphere. In the ischemic group, there was no immunoreactivity of Ref 1 protein in the core of infarction, and nuclear immunoreactivity of Ref 1 protein was decreased along with the extension of ischemic time in the penumbra. The difference among those groups was significant ( P
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AIM: To explore the mechanism of neuronal injury and repair by investigating the expression of caspase-3 and apurinic/apyrimidinic endonuclease (APE/Ref-1) after focal cerebral ischemia. METHODS: A model of middle cerebral artery occlusion in rats was performed . The expression of caspase-3P 20 and APE/Ref-1 was examined by immunohistochemistry staining, TUNEL was applied to detected DNA damage, and double labeling with TUNEL and APE/Ref-1 was used to determine the relationship between APE/Ref-1 and DNA damage. RESULTS: The active subunit P 20 of caspase-3 was predominantly expressed within ischemic penumbra. The peak time of caspase-3P 20 positive cells preceded the appearance of TUNEL. With aggravation of cerebral ischemia, APE/Ref-1 immunoreactive cells in penumbra were significantly decreased. CONCLUSION: The activation of caspase enzymatic cascade following cerebral ischemia leads to degradation in DNA, meanwhile, decrease in DNA repair molecules or the failure of DNA repair may deteriorate the course.