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.

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.

Objective The clinical data of postoperative perirenal hematoma after renal biopsy in recent 10 years were retrospectively analyzed,and its relationship with pathological type was explored.Methods From April 2003 to April 2013,2062 patients of renal biopsy were enrolled and divided into 3 groups:youth group (18-39 years,1634 cases),middle age group (40-59 years,323 cases) and aged group (≥60 years,105 cases).Relationship between renal hematoma and pathology was analyzed.Results There were 1370,255,69 cases of primary glomerular disease respectively in 3 groups,and 264,68,36 cases of secondary glomerular diseases.Three hundred and seventy-nine in all patients were complicated with perirenal hematoma,and the incidence rates were 15.8％ (325/2062),1.8％ (37/2062),0.8％ (17/2062) respectively.Incidence rate of hematoma in primary glomerular disease was higher than that in secondary diseases [19.0％ (322/1694) vs.15.5％ (57/368)].Three most common primary glomerular disease in which perirenal hematoma occured was IgA nephropathy 7.4％ (126/1694),focal/segmental lesions 4.2％(71/1694) and membranous nephropathy 2.4％ (41/1694); while the incidence rate of lupus nephritis hematoma was as high as 9.0％ (33/368).Conclusion Single-center data shows that the most common pathology types of perirenal hematoma are lupus nephritis,IgA nephropathy,focal/segmental lesions and membranous nephropathy.

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.

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.

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.

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.

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.

Objective:To analyze the clinical, electromyographic and tremor characteristics in tremor patients with neuronal intranuclear inclusion disease (NIID).Methods:From May 2018 to April 2023, 34 patients with NIID diagnosed in the Department of Neurology, Beijing Tiantan Hospital of Capital Medical University were retrospectively included. Sixteen patients with tremor of at least one limb and (or) head were in tremor group, and 18 patients without tremor were in control group. The clinical, electromyogram and tremor data of all participants were summarized, the clinical features and electromyogram differences of the 2 groups were compared, and the tremor characteristics of patients with NIID were analyzed.Results:The proportion of female patients in the tremor group was higher than that in the non tremor group (12/16 vs 7/18, P=0.045). The proportion of upper and lower limb peripheral nerve damage in the tremor group was lower than that in the non tremor group (2/16 vs 9/18, P=0.030), with statistical significance. There was no significant difference between the 2 groups in higher cortex and autonomic nervous dysfunction. The amplitude of composite muscle action potential and sensory nerve action potential in all patients was normal or slightly decreased; some patients experienced a decrease in motor and sensory fiber conduction velocity. The proportion of motor and sensory nerve conduction velocity slowing in the non tremor group was higher than that in the tremor group [motor nerve:41.7%(30/72) vs 17.2%(11/64), χ 2=9.64, P=0.002;sensory nerve:38.9% (35/90) vs 20.0%(16/80), χ 2=7.19, P=0.007]. The number of cases of postural tremors in different parts among the 16 patients was as follows: 13 in the upper limbs, 7 in the lower limbs, and 6 in the head; static tremor: 8 cases in the upper limbs, 3 cases in the lower limbs, and 5 cases in the head. At rest, the frequency of tremors in different parts of the body was as follows: upper limb (5.3±1.1) Hz, lower limb (4.2±0.4) Hz, and head (3.9±0.6) Hz. The difference in tremor frequency among the 3 parts was statistically significant ( F=3.92, P=0.047); Pairwise comparison showed that the frequency of head tremor was lower than that of upper limb tremor, with a statistically significant difference ( P=0.020). In a postural state, tremor frequency in different parts was as follows: upper limb (5.4±0.9) Hz, lower limb (5.0±0.7) Hz, head (3.9±0.7) Hz. There was a statistically significant difference in tremor frequency among the 3 parts ( F=6.65, P=0.005). Further pairwise comparison revealed statistically significant differences in tremor frequency between the patient′s head, upper and lower limbs ( P=0.001, P=0.022). Synchronous tremor rhythm was predominant, with occasional alternations or synchronous+alternations. There was no harmonic tremor spectrum was observed. Conclusions:NIID patients with tremors were more common in female patients.The degree of peripheral nerve damage was milder than those without tremors. The site and form of tremor were diverse, with a dominant frequency of 4-6 Hz, mainly synchronous rhythm, and no harmonic spectrum. Postural tremors were common in the limbs.

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.