ObjectiveTo summarize the clinical characteristics, antibody spectrum and neuroelectrophysiological features of autoimmune nodopathy(AN), and to explore the phenotypic differences among different antibody-positive subgroups.MethodsThe clinical and electrophysiological data of patients definitely diagnosed with AN in Beijing Tiantan Hospital, Capital Medical University, from October 2018 to January 2026 were retrospectively analyzed.ResultsA total of 33 patients with AN were included. Antibody examination results showed that, anti-neurofascin(NF)155 antibody was the most prevalent, detected in 17 patients(51.50%), followed by anti-contactin-1(CNTN1) antibody in 8 patients(24.24%). Anti-NF186 antibody(4 cases, 12.12%), anti-contactin-associated protein 1(Caspr1) antibody(2 cases, 6.06%) and dual-target antibody positivity(2 cases, 6.06%) were relatively uncommon. The main clinical manifestations of AN patients included symmetric distal paresthesia of the extremities(32 cases, 96.97%), limb weakness(31 cases, 93.93%) and sensory ataxia(25 cases, 75.76%). Different antibody-positive subgroups presented distinct phenotypic features: patients with positive anti-NF155 antibody had a relatively younger age of onset, chronic onset and a high incidence of tremor, which was dominated by immunoglobulin(Ig)G4 subclass antibodies; patients with positive anti-CNTN1 antibody had a relatively advanced age of onset, mostly presented with acute or subacute onset, and were prone to complicated nephrotic syndrome; patients with positive anti-NF186 antibody had relatively mild nerve conduction damage; patients with anti-Caspr1 antibody manifested acute or subacute onset, with relatively elevated cerebrospinal fluid protein level and 24-h intrathecal IgG synthesis rate. The prominent neuroelectrophysiological manifestations of AN included decreased motor and sensory nerve conduction velocities, prolonged distal latency, frequent non-compressive conduction block and abnormal temporal dispersion. Definite sensory nerve action potentials could not be elicited in more than half of the patients.ConclusionsPatients with AN show high heterogeneity in clinical and neuroelectrophysiological characteristics, and different antibody-positive subgroups correspond to specific clinical and neuroelectrophysiological phenotypes.

Spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorder characterised by progressive cerebellar and associated structural dysfunction. The prevalence of SCA subtypes are considerably variation among different ethnic groups and regions. However, the relative frequencies of these SCA subtypes remain understudied in northern Chinese populations. The study aimed to characterise the geographical heterogeneity of SCA subtypes between northern and southern China. We retrospectively analysed the genotypes and the clinical features of SCA patients primarily from northern China in Beijing Tiantan Hospital over the past five years. We compared the relative frequencies of subtypes found in the northern cohort with those reported in southern China. A total of 105 unrelated Chinese families were genetically verified, comprising 80 families from northern China and 25 families from southern China. Among the 80 families from northern China, SCA3 was identified in 46 families (57.5

Background:Recent evidence highlights the potential predictive value of paraspinal muscle degeneration in amyotrophic lateral sclerosis (ALS). However, the magnetic resonance imaging (MRI) characteristics of degeneration in lumbar paraspinal muscles in ALS and lumbosacral radiculopathy (LR) remain unclear. Methods:Comparison of fatty infiltration (FI) and relative cross-sectional area (rCSA) of the paraspinal muscles was conducted between 38 ALS patients and 32 LR patients. Results:The mean rCSA of the multifidus (MF), erector spinae (ES), and psoas major (PM) muscles was lower on the symptomatic onset side compared to the contralateral side at the L3-L5 segments in patients with ALS. On the symptomatic onset side, the FI of the ES (L1-L4 segments), MF (L4 segment), and PM muscles (L1, L2, and L4 segments) was significantly higher in ALS patients who had pathological spontaneous activity (PSA) than in those without PSA. At the L3-L5 segments on the symptomatic onset side, the mean rCSA of the MF, ES, and PM muscles was significantly higher in LR patients compared to ALS patients (p < 0.01). Similar differences in the rCSA of the MF, ES, and PM muscles were observed between lower limb-onset ALS patients and LR patients (p < 0.05). In addition, mild associations were observed between declines in the ALS functional rating scale (ALSFRS)-lower score and decreases in the rCSA of MF and PM muscles, as well as increased FI of the MF and ES muscles. Conclusion:The decrease in the rCSA of the paraspinal muscles on the symptomatic onset side suggests progressive involvement of muscle fibers in ALS patients. The presence of PSA in the paraspinal muscles appears to be more valuable and sensitive for evaluating fatty substitution than muscle atrophy in ALS. MRI parameters of the paraspinal muscles may be useful for monitoring disease progression in ALS and distinguishing ALS, especially lower limb-onset cases, from pauci-symptomatic LR.

Neuronal Intranuclear Inclusion Disease (NIID), caused by GGC repeat expansions in the NOTCH2NLC gene, has a poorly understood molecular pathogenesis. This study aimed to systematically delineate the molecular pathology of NIID for the first time by employing an unbiased proteomic approach in sweat gland tissue. We isolated sweat gland tissue from 20 NIID patients and 6 healthy controls via Laser Capture Microdissection and performed in-depth proteomic analysis using data-independent acquisition mass spectrometry, followed by functional annotation and mechanistic prediction through bioinformatics analyses, including Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, and Ingenuity Pathway Analysis. A total of 265 differentially expressed proteins were identified. Functional enrichment analysis revealed a pathological network composed of three core dysfunctions: (1) widespread mitochondrial dysfunction, evidenced by the general downregulation of proteins associated with energy metabolism and mitochondrial structure; (2) multidimensional autophagy failure, characterized by autophagic flux blockage (macroautophagy failure) and the predicted inhibition of Chaperone-Mediated Autophagy; and (3) a paradoxical and ineffective oxidative stress response, demonstrating a functional uncoupling between the upstream NRF2 activation signal and the execution of the downstream antioxidant pathway. The cellular validation confirmed that the pathogenic uN2CpolyG protein causes the downregulation of core hub proteins, substantiating the molecular pathology observed in patient tissue. Furthermore, a signal decoupling state was identified in the pivotal PI3K-Akt survival pathway. This study provides the first systematic proteomic view of NIID pathology in sweat gland tissue, substantiating that its core pathology is a self-reinforcing vicious cycle of mitochondrial dysfunction, abnormal autophagy, and oxidative stress imbalance. These findings offer a robust molecular framework for understanding GGC repeat expansion pathogenesis and illuminate new therapeutic avenues targeting these interconnected pathways.

BACKGROUND:Autoimmune nodopathy exhibits suboptimal responses to conventional immunotherapies. This study investigates the efficacy and safety of efgartigimod, a neonatal Fc receptor blocker, in this condition. METHODS:A prospective single-center study enrolled four antibody-confirmed autoimmune nodopathy patients receiving weekly efgartigimod (10 mg/kg) over 4 weeks. Disease progression was assessed using validated neurological scales (INCAT, ISS, I-RODS, and MRC) at baseline (Week 0), weekly during treatment (Weeks 1-4), and 4-week post-treatment follow-up (Week 8). RESULTS:Four patients (3 females, aged 17-72) responded to efgartigimod within 2 weeks, showing varied improvement based on antibody subtype. Patient 1 (anti-NF186 IgG3+) achieved full remission by Week 2 (INCAT 3 → 0). Patient 2 (anti-NF155 IgG4+) improved progressively (MRC 112 → 119; I-RODS 36 → 40). Patient 3 (anti-NF155 IgG1/IgG4+) quickly stabilized gait in the first week and gradually recovered (INCAT 5 → 2). Patient 4 (anti-CNTN1 IgG1/IgG2/IgG3/IgG4+) reduced tremors rapidly and improved sensorimotor function (ISS 8 → 6; I-RODS 12 → 14) despite a treatment interruption due to a fracture. Antigen-specific efficacy varied: NF186 neuropathy resolved completely, while IgG4-dominant paranodal cases (NF155/CNTN1) partially recovered, prompting sequential B-cell-targeted strategies. No severe adverse events occurred. CONCLUSIONS:Efgartigimod provided rapid functional recovery in autoimmune nodopathy. Differential responses by IgG subclass and antigenic targets highlight the necessity for biomarker-guided strategies.

Neuronal intranuclear inclusion disease (NIID) is a multifaceted disorder impacting both the central and peripheral nervous systems. This study aims to investigate the clinical and electrophysiological characteristics of peripheral neuropathy in patients with NIID. In this cross-sectional study, patients diagnosed with NIID were prospectively recruited from multiple centers across China between October 2017 and May 2024. Comprehensive neurological examinations, brain magnetic resonance imaging, and NOTCH2NLC gene analysis were performed. All participants underwent electrophysiological evaluations, which encompassed nerve conduction studies, F-wave studies, and needle electromyography. This analysis included a total of 78 patients diagnosed with NIID, with a mean age of 61.0 ± 9.9 years, of whom 60.2

Objective: The aim of our study was to compare the clinical value of pathological spontaneous activity (PSA) in different thoracic paraspinal muscles (TPMs) in amyotrophic lateral sclerosis (ALS). Methods: A total of 116 ALS patients were retrospectively analyzed over 31 +/- 8 months concerning the occurrence of PSA in T9-T11 TPM. The occurrence of PSA was correlated with pulmonary function and clinical disability. Results: The positive sharp wave (PSW) potentials were more frequently observed than fibrillation (fib) in T9-T11 segments. The PSA positive frequency of bulbar-onset ALS (B-ALS) is less than upper limb-onset ALS (U-ALS) and lower limb-onset ALS (L-ALS) at the levels of T10 and T11 TPM (p = 0.050, p = 0.001). The fibs/PSWs in TPM indicated high sensitivity and negative predictive value for forced vital capacity (FVC) < 80%. Linear correlation analysis indicated that PSA of TPM was associated with pulmonary ventilation function (PVF). Associations also exist between clinical parameters and PVF as well as the disease severity. Conclusions: The occurrence of T9-TPM fibs/PSWs was correlated with clinical disability and is extremely helpful in implying an involvement of PVF. The T9-TPM typically provided a good practical indicator for comprehensive disease evaluation, which was irrelevant to the site of onset.

AbstractBackgroundWe aimed to identify different Guillain–Barré syndrome (GBS) subtypes, demyelination, axonal degeneration, and reversible conduction failure (RCF) as early as possible by analyzing the initial clinical and electrophysiological examinations.MethodsThis study retrospectively collected GBS patients between October 2018 and December 2022 at Beijing Tiantan Hospital. The diagnostic criteria for the initial electrophysiological study were based on Rajabally's criteria, and the criteria for the serial electrophysiological study were based on Uncini's criteria. All subjects underwent clinical and electrophysiological evaluations at least twice within 8 weeks.ResultsA total of 47 eligible patients with GBS were included, comprising 19 acute inflammatory demyelinating polyradiculoneuropathy (AIDP), 18 axonal degenerations, and 10 RCFs. In the RCF group, 40%, 30%, and 30% patients were diagnosed as AIDP, axonal, and equivocal at the initial study, respectively. The AIDP group had significantly higher cerebrospinal fluid (CSF) protein than the RCF (123.8 [106.4, 215.1] mg/dL vs. 67.1 [36.8, 85.6] mg/dL, p = 0.002) and axonal degeneration (123.8 [106.4, 215.1] mg/dL vs. 60.8 [34.8, 113.0] mg/dL, p < 0.001) groups. The RCF group had significantly lower Hughes functional grades at admission (3 [2, 4] vs. 4 [4, 4], p = 0.012) and discharge (1.0 [1.0, 2.0] vs. 3.0 [2.0, 3.0], p < 0.001) than the axonal degeneration group and showed significantly shorter distal motor latency (DML), Fmin, Fmean, Fmax, and lower F% than the AIDP group (p < 0.05).DiscussionThe early identification of RCF from AIDP had relatively obvious features, including slightly elevated CSF protein levels and normal or slightly prolonged DML and F‐wave latencies, contrasting with the apparent elevation and prolongation seen in AIDP. Differentiating RCF from axonal degeneration remains challenging. One potential distinguishing factor is that the motor function in RCF tends to be better than in the latter.

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 investigate the clinical and neuroelectrophysiological characteristics of patients with primary peripheral nerve hyperexcitability syndrome (PNHS). Methods: The clinical data of 20 patients who were diagnosed with PNHS in Beijing Tiantan Hospital from April 2016 to January 2023 were retrospectively collected. All patients underwent neuroelectrophysiological examinations. Clinical and electrophysiological characteristics were compared between the antibody positive and antibody negative groups, according to serum and cerebrospinal fluid anti-contactin-associated protein-like 2 (CASPR2) and/or anti-leucine-rich glioma-inactivated protein 1 (LGI-1) antibodies. Results: There were 12 males and 8 females, with a mean age of (44.0±17.2) years and the disease course of [M (Q1, Q3)] 2.3 (1.1, 11.5) months. Motor symptoms included fasciculations, myokymia, muscle pain, cramps, and stiffness. These symptoms were commonly seen in the lower limbs (17 patients), followed by upper limbs (11 patients), face (11 patients) and trunk (9 patients). Nineteen (19/20) patients had sensory abnormalities and/or autonomic dysfunction, 13 patients had central nervous system involvement, and 5 patients had concomitant lung cancer or thymic lesions. The characteristic spontaneous potentials on needle electromyography (EMG) were myokymia potential (19 patients), fasciculation potential (12 patients), spastic potential (3 patients), neuromyotonic potential (1 patients), etc, which were commonly seen in the lower limb muscles, especially the gastrocnemius muscle(12 patients). After-discharge potential was found in 8 patients, and 7 were in the tibial nerve. Seven patients had positive serum anti-CASPR2 antibodies, and 3 of them had concomitant anti-LGI1 antibodies. And 1 patient had positive serum anti-LGI1 antibody alone. Compared with patients in the antibody negative group (n=12), the patients who had anti-VGKC complex antibodies (n=8) had a shorter course of disease [M (Q1, Q3): 1.8 (1, 2) months vs 9.5 (3.3, 20.3) months, P=0.012], higher incidence of after-discharge potential (6/8 vs 2/12, P=0.019). The immunotherapy regimen (multi-dru, single-drug, no immunotherapy: 6, 2, 0 patients) in antibody-positive patients was different from the antibody-negative group (3, 6, 3 patients, U=21.00, P=0.023). Conclusions: The symptoms of motor nerve hyperexcitation, characteristic EMG spontaneous potentials and after-discharge potentials in PNHS patients are most commonly seen in the lower limbs. Attention should be paid to concomitant sensory and autonomic nerve hyperexcitation. PNHS patients with positive serum anti-CASPR2 antibodies may require immunotherapy with multiple drugs.

目的 提高对周围神经高兴奋综合征(peripheral nerve hyperexcitability syndromes,PNHS)的认识.方法 回顾性分析以瘙痒为突出表现的PNHS患者2例,总结其临床特点、诊疗经过及随访转归,结合文献予以分析讨论.结果 病例1为60岁男性,为抗接触蛋白相关蛋白2(contactin-associated protein-like 2,CASPR2)/抗富含亮氨酸胶质瘤失活蛋白1(leucine rich glioma inactivated 1,LGI1)抗体双阳性患者,表现为双下肢疼痛、肉跳及严重瘙痒,病程中有多汗、二便异常及情绪、睡眠障碍.肌电图表现为周围神经高兴奋性及四肢交感皮肤反应(sympa-thetic skin response,SSR)异常.最终诊断为Morvan综合征;抗CASPR2/LGI-1抗体相关自身免疫性脑炎.患者2为37岁女性,为CASPR2抗体阳性患者,表现为双下肢的疼痛及肉跳、下腹部及会阴部持续瘙痒,病程中有多汗、二便异常及情绪、睡眠障碍,既往体健.肌电图可见肌颤搐电位及SSR异常.电流感觉阈值(Current perception threshold,CPT)检测提示2000 Hz电流刺激感觉神经纤维阈值降低.该患者最终诊断为Isaacs综合征.2例患者在免疫治疗及对症治疗后均达临床缓解.复查肌电图不同程度改善.结论 严重瘙痒可以为伴CASPR2抗体阳性的PNHS患者的突出表现,识别其临床表现并完善相应的血清学及肌电图检测有助于早期诊断,积极的免疫治疗可有效缓解病情.

目的 分析慢性炎性脱髓鞘性多发性神经病郎飞结/结旁疾病患者中枢神经系统受累(central nervous system involvement,CNSI)和自主神经损伤(autonomic nerve injury,ANI)的特点,评估其电生理检查的亚临床损害特征.方法 回顾性分析2018年9月至2021年5月北京天坛医院确诊的10例郎飞结/结旁疾病患者的临床特点、功能评分和电生理检查,分别评估瞬目反射(blink reflex,BR)、面神经传导(facial nerve conduction,FNC)、交感皮肤反应(sympathetic skin response,SSR)和心率变异性(heart rate variation,HRV)对 CNSI 以及 ANI 的评估价值.结果 CNSI组MRC总分(MRC-sum score)显著低于非中枢神经系统受累(non-CNS involvement,NCNSI)组(33.5分比55.8分,P=0.016),CNSI 组总体神经病变限制性量表(overall neuropathy limitation scale,ONLS)评分和改良 Rankin 量表(modified Rankin scale,MRS)评分显著高于NCNSI组(5.5 分比 1.8 分,P=0.015;3.5 分比 1.1 分,P=0.005).临床症状与BR Kappa系数为0.20(P=0.350),临床症状与FNC Kappa系数为0.18(P=0.440),临床症状与SSR检查Kappa系数为-0.54(P=0.100),临床症状与HRV检查Kappa系数为0.10(P=0.760).年龄与口轮匝肌潜伏期、SSR下肢潜伏期和最大值/最小值(E/I)具有相关性(r=-0.740,P=0.009;r=0.615,P=0.011;r=-0.779,P=0.013).病程与E/I、SSR上肢潜伏期和下肢潜伏期具有相关性(r=0.722,P=0.028;r=-0.548,P=0.019;r=-0.695,P=0.003).13 项小纤维神经病和症状问卷(small fiber neuropathy and symptoms inventory questionnaire,SFN-SIQ)与 SSR下肢潜伏期和下肢波幅具有相关性(r=0.781,P=0.022;r=-0.878,P=0.004).结论 郎飞结/结旁疾病患者CNSI和ANI并不少见,CNSI临床症状更重,运动功能损害更明显,BR和FNC可反映CNSI亚临床损害特征,SSR可反映ANI并评估其严重程度,下肢检测异常更具敏感性.

目的 分析肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)的F波特点及上运动神经元损害对F波的影响.方法 纳入确诊和很可能ALS(改良EI Escorial标准)患者52例为ALS组,性别、年龄、身高匹配的健康志愿者37名为对照组.根据上肢有无锥体束征,把ALS组分为有锥体束征组和无锥体束征组.所有对象进行常规电生理检测,采集与临床评估同侧肢体的正中神经末端运动潜伏期(distal motor latency,DML)、神经复合肌肉动作电位(compound muscle action potential,CMAP)峰-峰波幅和F波最大峰-峰波幅(F wave maximal peak-to-peak amplitude,FAmax)、FAmax/M波峰-峰波幅比(F/M)、重复F波及巨大F波百分比.结果 与对照组比较,ALS 组F/M(0.05±0.02 vs.0.15±0.15)、F 波重复率[0(0,10.0％)vs.67.0％(34.2％,87.8％)]、神经元重复率[0(0,5.3％)vs.34.2％(14.2％,60.0％)]和巨大F波百分比[0(0,0)vs.0(0,12.1％)]明显升高,均有统计学差异(P＜0.05).与ALS 无锥体束征组比较,ALS 有锥体束征组 F 波波幅[(0.50±0.40)mv vs.(1.14±0.80)mv]、F/M[0.06(0.02,0.11)vs.0.12(0.07,0.23)]、F 波重复率[31.5％(0,50.8％)vs.77.8％(53.8％,94.7％)]及神经元重复率[13.0％(0,33.0％)vs.50.0％(23.8％,75.0％)]显著升高(P＜0.05).有锥体束征组中,13例(38％)患者正中神经可见巨大F波,无锥体束征组未见巨大F波.结论 ALS患者上运动神经元损害可关键性引起脊髓运动神经元兴奋性增高,可表现为FAmax、F/M增高,且巨大和重复F波增多.

目的 探讨髂腰肌肌电图在诊断多发性肌炎中的应用价值.方法 回顾性收集2018-01至2019-02于首都医科大学附属北京天坛医院就诊并确诊为多发性肌炎的28例患者(多发性肌炎组)的临床资料,以及年龄、性别相匹配的健康人20名(对照组),就其髂腰肌、股四头肌、三角肌肌电图自发电位和小力收缩运动单位电位(motor unit action potential,MUAP)进行分析.结果 对照组髂腰肌未检测出自发电位,多发性肌炎组髂腰肌自发电位阳性率为57.14％(16/28),显著高于对照组(P<0.001);另外其MUAP波幅显著低于对照组[(424.20±82.41)μV vs.(593.93±65.49)μV,P<0.001],MUAP时限也显著短于对照组[(9.73±2.05)vs.(11.26±0.42)ms,P<0.01].在肌肉病患者中,股四头肌自发电位阳性率为35.71％(10/28),三角肌自发电位阳性率为25.00％(7/28),三角肌自发电位显著低于髂腰肌(P<0.05).结论 髂腰肌在多发性肌炎患者中有明显的肌源性损害的表现,可为临床提供更加敏感、客观的诊断依据.

OBJECTIVE:To establish age-related characteristics and normative values of F waves in healthy Chinese infants. METHODS:We studied median, ulnar and tibial nerves on one side distally in 229 healthy Chinese infants (108 males) ranging from 1 to 12 months old. RESULTS:Minimal F-wave latencies (Fmin) showed a strong negative correlation to the age for median, ulnar and tibial nerves (P < 0.01) but no correlation to the height. Statistical analyses revealed a significant (P < 0.01) decrease of Fmin during the second month of life and no change (P > 0.05) thereafter. Dividing the infants into 1 month old (Group 1) and 2-12 months old (Group 2), normal values (Mean ± SD ms) of Fmin for tibial, median and ulnar nerves consisted of 23.38 ± 1.68, 17.19 ± 0.95 and 16.47 ± 1.06 for Group 1 and 21.42 ± 1.25, 14.50 ± 1.15 and 14.52 ± 0.90 for Group 2. CONCLUSION:F-wave latencies shorten in the 2nd month of life and change little thereafter when age-related maturation counters the concomitant growth of the nerve length. SIGNIFICANCE:F waves can assess infantile neuropathies as a reliable measure, complementing the technically difficult conventional nerve conduction study in short limbs.

目的 探讨周围神经病后震颤患者的临床及电生理特点.方法 回顾性收集2016年3月至2019年10月北京天坛医院神经病学中心收治的周围神经病后震颤患者15例为周围神经病组,另选取年龄、性别相匹配的特发性震颤患者11例为对照组.收集入组对象的临床资料及神经电生理结果,分析周围神经病后震颤的临床特点,并比较两组震颤部位、频率、半宽功率、全宽功率、节律形式等震颤特点.结果 (1)临床特点:单纯感觉异常3例,单纯力弱4例,感觉异常伴力弱8例;免疫介导性周围神经病12例(12/15)、腓骨肌萎缩症2例(2/15)、双侧肘管综合征1例(1/15).(2)肌电图特点:感觉、运动神经纤维均受累10例,纯运动纤维受累4例,仅感觉纤维受累1例.(3)震颤部位、频率、功率及节律:15例均有双上肢远端姿势性震颤,双上肢静止性震颤2例,双下肢姿势性震颤2例.双上肢姿势性震颤频率4.6～11.1 Hz,平均(7.78±1.99)Hz,持物1000 g震颤频率为(7.86±1.84)Hz,意向性震颤频率为(7.41±1.98)Hz,3种状态间震颤频率比较无统计学差异(F=0.225,P>0.05),而半宽、全宽震颤功率比较均有统计学差异(H=16.280,P<0.05;H=35.267,P<0.05);上下肢震颤节律形式为同步或同步+交替.(4)与特发性震颤区别:11例特发性震颤均有双上肢姿势性震颤,双上肢静止性震颤4例,头部震颤4例;周围神经病组姿势、持物1000 g、意向性震颤频率与特发性震颤组比较差异均无统计学意义(均P>0.05);周围神经病组意向性震颤出现率低于特发性震颤组(40％比100％,P<0.05);两组意向性震颤半宽、全宽功率比较差异有统计学意义(Z=-3.478,P<0.05;Z=-2.964,P<0.05).结论 周围神经病后震颤以免疫介导性周围神经病多见,常表现为双上肢姿势性震颤,频率较宽泛,与持物1000 g及意向性震颤频率无统计学差异,节律形式为同步或同步+交替,意向性震颤的出现率及震颤功率均低于特发性震颤者.

We described the clinical and neuroimaging characteristics of seven Chinese patients with anti-GAD65 antibody-associated neurological disorders of whom epileptic seizures were the initial and main symptoms. All patients were given immunotherapy and followed up monthly. The outcome demonstrates that immunotherapy is helpful for non-seizure manifestations of anti-GAD65-associated neurological autoimmunity and is less effective in the treatment of seizures, yet partial responses can still occur in the early stage. Taken together we suggest a trial with immunotherapy in all patients in the early stage of the disease, and in patients with non-epilepsy symptoms in the later stage.

目的 总结脑血管疾病后Holmes震颤的临床、影像和电生理特点.方法 回顾性分析2015年8月-2019年8月就诊于首都医科大学附属北京天坛医院的4例脑血管疾病所致Holmes震颤患者,对其临床、影像及电生理资料进行分析总结.结果 4例患者中2例由高血压性脑出血引起,另外2例分别由脑动静脉畸形和脑海绵状血管瘤破裂出血引起.Holmes震颤出现于原发病后1～24个月,表现为病灶对侧肢体震颤,以上肢多见.头颅MRI检查显示2例患者病灶仅累及丘脑,2例同时累及丘脑和中脑.震颤分析显示静止、姿势、意向及持物1000g几种状态下震颤的峰频率均在2.6～3.8Hz,意向状态震颤半宽功率高于静止状态.主动肌与拮抗肌在静息时以同步收缩为主,姿势、意向和持物时以交替收缩为主.3例接受普拉克索治疗均有不同程度缓解.结论 Holmes震颤多由累及中脑、丘脑部位脑血管疾病引起,表现为2～4Hz低频震颤,意向状态震颤明显,部分患者多巴胺受体激动剂治疗有效.

目的 探讨氧化亚氮吸入致神经系统损害的临床、神经电生理及影像学特点.方法 收集首都医科大学附属北京天坛医院3例氧化亚氮吸入致神经系统损害患者的临床、神经电生理和影像学检查资料,并进行治疗后随访,复习相关文献,总结临床及辅助检查特点.结果 氧化亚氮吸入所致神经系统损害临床可表现为周围神经病、脊髓亚急性联合变性及认知障碍等,神经电生理表现为长度依赖性多发性轴索性周围神经病,颈椎MRI表现为脊髓后索倒V字形T2WI高信号,早期治疗部分神经系统损害可逆.结论 神经系统受累且有氧化亚氮吸入史的患者,应尽早行维生素B12、同型半胱氨酸、甲基丙二酸、肌电图及颈椎MRI等检查,以便及时诊治,减少后遗症,改善预后.