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Objective:To investigate the clinical and electrophysiological characteristics of ANCA-associated vasculitic neuropathy (VN) and analyze the predictors of treatment outcomes.Methods:Retrospective case series. In all, 652 consecutive patients with ANCA-associated vasculitis were admitted to the First Medical Center of the Chinese PLA General Hospital between January 2006 and December 2022. Peripheral neuropathy occurred in 91 patients. Patients were excluded if other known causes of neuropathy were present. Sixty-one patients were eventually enrolled, including 17 with eosinophilic granulomatosis with polyangiitis (EGPA), 11 with granulomatosis polyangiitis (GPA), and 33 with microscopic polyangiitis (MPA). Their clinical data were collected and clinical characteristics, VN manifestations, electrophysiological findings (including interside amplitude ratio [IAR]), and treatment outcomes were compared among the three subsets of AAV. Then, factors influencing the treatment outcomes were analyzed using multivariable logistic regression analysis.Results:Peripheral neuropathy occurred in 62.1%(18/29) of EGPA, 8.3%(15/180) of GPA, and 13.1%(58/443) of MPA patients. The age at onset and examination was higher in patients with MPA than those with EGPA or GPA ( P<0.01). The occurrence of VN was later in patients with GPA than those with EGPA ( P<0.01), and the GPA group had fewer affected nerves than the other two groups ( P<0.016). The abnormal IARs of motor nerves in lower limbs were more detected in the EGPA than the MPA group ( P<0.01). Logistic regression analysis suggested that higher Birmingham vasculitis activity score-version 3 (BVAS-V3) ( OR=6.85, 95% CI 1.33-35.30) was associated with better treatment outcomes of VN. However, central nervous system involvement was a risk factor for poor treatment outcomes ( OR=0.13, 95% CI 0.02-0.89). Conclusions:The clinical and electrophysiological characteristics of VN were slightly different among subsets of AAV. Patients with GPA often presented with polyneuropathy and had fewer nerves affected; mononeuritis multiplex was more common in EGPA than GPA and MPA. Higher BVAS-V3 and central nervous system involvement might predict the treatment outcome of VN.
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Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant hereditary sensory and motor neuropathy characterized by recurrent numbness and limb weakness. In clinical practice, some patients may present with mild or atypical clinical symptoms, which tends to result in missed diagnosis or misdiagnosis of HNPP. This article summarizes the pathogenesis, epidemiology, clinical manifestations, auxiliary examination, diagnosis and differential diagnosis, management, and prognosis of HNPP.
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Objective:To investigate the association between split foot and electrophysiology in patients with amyotrophic lateral sclerosis (ALS).Methods:The clinically definite or clinically probable ALS patients hospitalized in the Department of Neurology, the First Medical Center of Chinese People′s Liberation Army General Hospital from April 2021 to December 2022 were prospectively collected. From April 2021 to December 2022, patients who visited the Chinese People′s Liberation Army General Hospital for other reasons without abnormal electrophysiological examination were collected as the control group. The incidence of split leg [the limb whose modified Medical Research Council Muscle Strength Scale (mMRC) score of ankle dorsiflexors was lower than that of ankle plantarflexors] in ALS patients was calculated, and the incidence of split foot (the limb whose mMRC score of hallux dorsiflexors was lower than that of hallux plantarflexors) in ALS patients was calculated. The amplitude of compound muscle action potential (CMAP) of common peroneal nerve and tibial nerve was detected to observe the involvement of motor neurons innervating ankle dorsiflexors and ankle plantarflexors. The characteristics of split leg and split foot in ALS patients were analyzed from the perspective of muscle strength, and the characteristics of split foot in ALS patients were analyzed from the perspective of electrophysiology. Receiver operating characteristic (ROC) curve was used to analyze the sensitivity and specificity of peroneal nerve/tibial nerve CMAP amplitude ratio in distinguishing ALS patients from controls.Results:A total of 101 ALS patients with lower limb involvement and 110 controls with normal lower limb muscle strength were collected. Among the 101 ALS patients with lower limb involvement, strength of ankle plantarflexors was greater than that of ankle dorsiflexors in 35.64% (36/101) patients, strength of ankle dorsiflexors was greater than that of ankle plantarflexors in 5.94% (6/101) patients, and strength of ankle plantarflexors and ankle dorsiflexors was equal in 58.42% (59/101) patients. Strength of hallux dorsiflexors was lower than that of hallux plantarflexors in 53.47% (54/101) patients, strength of hallux dorsiflexors was greater than that of hallux plantarflexors in 1.98% (2/101) patients, and the strength of hallux dorsiflexors and hallux plantarflexors was equal in 44.55% (45/101) patients. The incidence of split leg was negatively correlated with age ( OR=0.25, 95% CI 0.16-0.40, P<0.05), course of disease ( OR=0.52, 95% CI 0.38-0.80 P<0.05) and ALS functional revised scores ( OR=0.29, 95% CI 0.12-0.67, P<0.05). The incidence of split foot was negatively correlated with the onset time of lower limb symptoms ( OR=0.96, 95% CI 0.93-0.99, P<0.05). Compared with the control group, the differences of the decrease of CMAP amplitude in the common peroneal nerve and tibial nerve [the common peroneal nerve (6.45±2.56) mV vs (3.63±1.83) mV, tibial nerve (12.87±4.72) mV vs (9.18±6.22) mV] were statistically significant ( t=-4.65, t=-3.44, both P<0.001) and the differences of the peroneal nerve/tibial nerve CMAP amplitude ratio (0.54±0.24 vs 0.36±0.18) decrease was statistically significant ( t=-4.31, P<0.001) in patients with split foot. ROC curve analysis showed that the area under the ROC curve of CMAP amplitude ratio of common peroneal nerve/tibial nerve in ALS patients with split foot was 0.70, indicating that the accuracy of CMAP amplitude of common peroneal nerve/tibial nerve in distinguishing ALS patients from controls was low. Conclusions:In ALS patients with lower limb involvement, strength of ankle dorsiflexors is weaker than that of ankle plantarflexors, and strength of hallux dorsiflexors is weaker than that of hallux plantarflexors. At the diagnostic level, the CMAP amplitude ratio of common peroneal nerve/tibial nerve in ALS patients with split foot has a lower accuracy in the diagnosis of ALS.
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Objective:Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants.Methods:In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General Hospital from December 2012 to March 2020 with clinical diagnosis of CMT, and reported variants of MFN2, BSCL2 and LRSAM1 related to CMT2.Results:We reported ten MFN2 mutations in ten unrelated patients (7 male, 3 female), two of whom had positive family history. Three novel mutations were detected including c.475-2A>G (splicing); c.687dupA (p.E230Rfs*16) and c.558dupT (p.S186fs). We reported three BSCL2 mutations of four unrelated patients, including c.461C>G (p.S154W), c.461C>T(p.S154L), and novel variants of c.1309G>C (p.A437P) and c.845C>T (p.A282V). Furthermore, two novel variants of LRSAM1, including c.1930G>T (p.G644C) and c.1178T>A (p.L393Q) were detected in two unrelated patients.Conclusion:Mutational spectrum of MFN2-, BSCL2-and LRSAM1-related CMT disease is expanded with the identification of novel variants in Chinese patients.
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This article gives a brief introduction to the current situations on neurogenetics in China. It includes the following aspects: gene identification of neurogenetic diseases, researches on one neurogenetic disease caused by different genes, some issues on case report of novel mutation, and the selection of gene diagnosis techniques.
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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,
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Amyotrophic lateral sclerosis (ALS) is a progressively aggravating fatal neurodegenerative disease, and there is no radical cure. This paper reviews the current progress of ALS therapies, mainly including drug therapy, symptomatic management, stem cell transplantation and gene therapy.
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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.
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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.
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Patella baja is one of the complications after total knee arthroplasty (TKA).It refers to an abnormal location of patella occurred secondary to shortening of the patellar tendon or distal positioning of the patella relative to the femoral trochlea.Clinically,it can be classified into congenital,acquired,and a combination of the above two types.Acquired patella baja is the most common type and usually occur as a result of trauma or surgery.Acquired patella baja is also caused by elevation of the joint line after TKA,which refers to pseudo-patella baja.Presently,its etiology is still uncertain.Some studies report the following causes of patella baja,including extending of quadriceps femoris,contracture of patella tendon or patellar fat pad,and fibrosis of joint.The diagnosis is mostly based on the lateral roentgenogram.The following parameters,including Insall-Salvati ratio,Modified Insall-Salvati ratio,Blackburne-Peel ratio,Caton-Deschamps ratio and Plateau-Patella angle,are used to assist diagnosis for patella baja.With the progress of imageology,some literatures describe several methods based on magnetic resonance imaging (MRI).However,the diagnostic methods of patella baja are not entirely precise.Patella baja can lead to decreased range of motion (ROM),a decreased lever arm,impingement of the patella against the tibial polyethylene or tibial plate,which may result in anterior knee pain,rupture of the patellar or quadriceps tendons.The treatment of patella baja depends on determining the cause and distinguishing between patella baja and pseudo-patella baja.Patients with severe symptom or failed for conservative treatment should receive surgery.The corrective measures for patella baja include lengthening of the patellar tendon and proximalize osteotomy of tibial tuberosity.In addition,the therapies for pseudo-patella baja include reestablishing the joint line by use of distal femoral augment,replacement of the patellar implant or polyethylene insert.
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Objective To explore the clinical characteristics and gene mutation in a patient clinically diagnosed as dopa-responsive dystonia (DRD) without family history.Methods The clinical characteristics of a patient clinically diagnosed as DRD without family history were collected and molecular and bioinformatic analyses were performed.Results The patient demonstrated as type A tyrosine hydroxylase deficiency and a compound heterozygous mutation of tyrosine hydroxylase (TH) gene was found,including a known nonsense mutation,c.457C＞T and a novel missense mutation,c.734G＞T that was probably pathologically predicted by bioinformatic analysis.Conclusion c.734G＞T may be a novel pathological mutation of TH gene.
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Objective To study the role of interictal epileptiform discharge (IED) in reducing recurrent epilepsy after withdrawal of antiepileptic drugs (AED).Methods One hundred epilepsy pa tients with no seizure for ≥2 years were divided into IED group (n=51) and IED free group (n=49) according to the classification of epilepsy seizure developed by the International Association for the Prevention of Epilepsy in 1981.The patients were further divided into elderly group (n=21) and non-elderly group (n=79) and were followed up for at least 1 year by return visit or telephone.Results No significant difference was found in the incidence of IED in the 100 epilepsy patients with different types of seizure,such as myospasm,simple partial seizure and ≥2 seizures.However,the incidence of IED was significantly higher than that of myotonia,myospasm,absence and simple partial seizure (P＜0.05).Epilepsy recurred in 37 patients (72.5％) of IED group and in 16 patients (32.7％) of IED-free group.Logistic regression analysis showed that the course of epilepsy and IED were the risk factors for recurrent epilepsy after withdrawal of AED (OR=1.165,95％CI:1.022-1.329,P=0.022;OR=2.794,95％CI:1.040-7.509,P=0.042) and the course of epilepsy was longer in elderly group than in non-elderly group (10.10±7.55 years vs 5.97±4.04 years,P=0.001).Conclusion The seizure type and course of epilepsy are the relia ble predictors of recurrent epilepsy in patients with no seizure for a long time after withdrawal of AED,and are thus of clinical significance.
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Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) is a primary headache syndrome with an unclear pathogenesis. However, there is increasing evidence in the literature for secondary SUNCT being attributable to certain known lesions. We explored the possible neurobiological mechanism underlying SUNCT based on all reported cases of secondary SUNCT for which detailed information is available. Here we report a case of neuromyelitis optica spectrum disorders that had typical symptoms of SUNCT that might have been attributable to involvement of the spinal nucleus of the trigeminal nerve. We also review cases of secondary SUNCT reported in the English-language literature and analyze them for demographic characteristics, clinical features, response to treatment, and imaging findings. The literature review shows that secondary SUNCT can derive from a neoplasm, vascular disease, trauma, infection, inflammation, or congenital malformation. The pons with involvement of the trigeminal root entry zone was the most commonly affected region for inducing secondary SUNCT. In conclusion, the neurobiology of secondary SUNCT includes structures such as the nucleus and the trigeminal nerve with its branches, suggesting that some cases of primary SUNCT have underlying mechanisms that are related to existing focal damage that cannot be visualized.
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Trastornos de Cefalalgia , Cefalea , Inflamación , Neurobiología , Neuromielitis Óptica , Puente , Lágrimas , Nervio Trigémino , Neoplasias VascularesRESUMEN
The 28th International Conference on Amyotrophic Lateral Sclerosis (ALS)-Motor Neuron Disease was held in Boston from December 8 to 10, 2017. The conference covered 23 topics, 102 special topics and 446 papers. This article briefly introduces some topics of the conference, involving basic research, clinical research and clinical trials. Among these, basic studies include genetics, cell biology and pathology, and superoxide dismutase1 gene ALS related pathology; clinical studies include the progression of ALS disease, cognitive behavioral disorders, and biological markers.
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Ten patients diagnosed with multifocal motor neuropathy ( MMN) were recruited in the Department of Neurology at Chinese PLA General Hospital from January 1, 2009 to August 31, 2015.The clinical and electrophysiological features were analyzed retrospectively .All patients complained of progressive asymmetric limb weakness , which was more severe in distal than in proximal . Five presented muscle atrophy.None had sensory disturbances .All suffered diminished or disappeared tendon reflex , whereas Babinski signs were negative .Multi-focal conduction block ( CB) was confirmed by nerve conduction studies ( NCS) in all patients and 7 showed spontaneous potentials in needle electrode electromyography .Abnormal sensory nerve conduction was seen in 3 patients.Laboratory test revealed anti-ganglioside GM1 antibody in cerebrospinal fluid (CSF) in 6 cases and elevated CSF protein in 7 cases.Limb weakness alleviated greatly in 9 cases after intravenous immunoglobulin ( IVIg) treatment.But the other one reported poor response , who had long course of disease , serious limb weakness and obvious muscle atrophy .Motor nerve damage is the most important manifestation of MMN and sensory nerve damage may also appear .NCS is essential to the diagnosis of this disease , with CB as the characteristic electrophysiological feature .IVIg is an effective treatment.
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Objective To analyze the sensitivity of auxiliary examinations in different periods of sporadic Creutzfeldt-Jakob disease (sCJD).Methods The clinical data of 53 sCJD patients were retrospectively analyzed including the different stages of skull diffusion-weighted magnetic resonance imaging (DWI),24-hour ambulatory electroencephalogram (EEG),18F-FDG PET/CT (PET-CT)and cerebrospinal fluid 14-3-3 protein.When calculating the sensitivity of an auxiliary examination,the diagnostic criteria were defined by combining the specific clinical manifestations with two or more positive results of other auxiliary examinations.Results There were 24,53 and 22 sCJD patients,respectively,met the criterion of early (E),middle (M) and later (L) stage of disease (some patients fit 2 or 3 stages).The sensitivity ofDWl (E:58.3％ M:85.4％,L:94.7％),EEG (E:45.8％,M:62.7％,L:77.8％),14-3-3 protein in cerebrospinal fluid (E:11.1％,M:52.9％) and PET-CT (E:80％,M:100％) increased gradually with disease progression,The sensitivity of PET-CT was higher than the other auxiliary examinations for E and M stages;no PET-CT was conducted in L stage.High signal regions mainly distributed in the cortex in E and M stages,but in L stage,no significant difference was found on the distribution of high signal regions between cortex and basal ganglia.Conclusions The sensitivities of the auxiliary examinations were different for sCJD patients in different stages.Reexaminations in different periods may improve the sensitivity for sCJD diagnosis.The sensitivity of PET-CT was high,and the combination of PET-CT and other auxiliary examinations may play a key role in the diagnosis of sCJD.
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Objective To analyze the features of nerve conduction in patients with amyotrophic lateral sclerosis (ALS),and explore the correlation between compound muscle action potential (CMAP)amplitude and disease duration and revised amyotrophic lateral sclerosis functional rating scale (ALSFRSR).Methods Standard motor and sensory nerve conduction studies were performed in 154 patients with ALS.The following parameters were collected including CMAP amplitude,distal motor latency (DML),motor conduction velocity,sensory conduction velocity and sensory nerve action potential amplitude.Regression study was done to explore the correlation between CMAP amplitude and disease duration and ALSFRS-R.Results Motor nerve conduction abnormalities were presented in a majority of the patients with prolonged DML in the tibial nerve,median nerve and ulnar nerve as the most common form (61.06％-81.42％),followed by decreased CMAP amplitude (30.12％-53.98％),decreased MCV (12.05％-16.81％) and absence of CMAP (2.65％-9.73％).Sensory nerve conduction abnormalities were detected in a small proportion of patients and the decreased SCV,decreased SNAP amplitude and absence of SNAP in the sural nerve,median nerve and ulnar nerve were found in 1.22％-2.73％,0-1.82％ and 0-1.22％patients respectively.No correlation was found between CMAP of the common peroneal nerve,tibial nerve,median nerve and ulnar nerve and the disease duration (P ＞ 0.05),while significant positive correlation was established between CMAP amplitude of the median nerve and ulnar nerve and ALSFRS-R (r =0.273,P =0.016;r =0.357,P =0.001).Conclusions Motor nerve conduction is abnormal in a majority of ALS patients with prolonged DML as the most common form,while abnormal sensory nerve conduction is only found in a few of ALS patients.CMAP amplitude of the median nerve and ulnar nerve might be of certain clinical value in evaluating the severity of ALS.
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Objective To investigate the serum creatinine (SCr) level in patients with sporadic amyotrophic lateral sclerosis (sALS) and to explore the relationship between the SCr level and the clinical characteristics.Methods A total of 80 patients with sALS,80 patients with multiple system atrophy (MSA) and 80 patients with tension-type headache (TTH) were enrolled in the study.The SCr levels were compared among the three groups.The association between the SCr level and the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R),the forced vital capacity (FVC) percentage of predicted (FVC％ pred),the site of symptom onset,the duration of disease and the rate of disease progression was evaluated in the sALS group.Results The SCr level was significantly decreased in the sALS group than the other two groups [(60.86 ± 16.80) μmol/L vs (70.05 ± 12.79) μmol/L and (66.97-± 14.14) μmol/L,P ＜ 0.01].In the sALS group,the SCr level was positively correlated with the ALSFRS-R (r =0.315,P =0.005),while no correlation was found between the SCr level and the FVC％ pred,the site of symptom onset,the duration of disease and the rate of disease progression (all P ＞ 0.05).Conclusion The SCr level is an important biochemical index in the patients with sALS and might play an important role in monitoring the disease progression.
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<p><b>BACKGROUND</b>Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease caused by abnormal expansion of cytosine-thymine-guanine (CTG) repeats in the myotonic dystrophy protein kinase gene. The clinical manifestations of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations, which make molecular methods essential for the diagnosis. So far, very few studies about molecular diagnosis in Chinese patients with DM1 have been reported. Therefore, we carried out a study using two different methods in molecular diagnosis to verify the validity in detecting CTG expansion in Chinese patients showing DM signs.</p><p><b>METHODS</b>A total of 97 Chinese individuals were referred for molecular diagnosis of DM1 using conventional polymerase chain reaction (PCR) accompanied by Southern blotting and triplet primed PCR (TP-PCR). We evaluated the sensitivity and limitation of each method using percentage.</p><p><b>RESULTS</b>By conventional PCR 65 samples showed only one fragment corresponding to the normal allele and 62 out of them were correctly diagnosed as DM1 by TP-PCR and three homologous non-DM1 samples were ruled out; Southern blotting analysis successfully made 13 out of 16 correct diagnoses with a more sensitivity using α-(32)P-labeled probes than dig-labeled probes.</p><p><b>CONCLUSION</b>Molecular analysis is necessary for the diagnosis of DM1 and TP-PCR is a reliable, sensitive, and easily performed method in molecular diagnosis which is worthy to be popularized.</p>
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Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Southern Blotting , Técnicas de Diagnóstico Molecular , Métodos , Distrofia Miotónica , Diagnóstico , Genética , Reacción en Cadena de la Polimerasa , Sensibilidad y EspecificidadRESUMEN
<p><b>OBJECTIVE</b>To investigate the relationship between the 3 polymorphic loci of endothelin receptor type A (EDNRA) gene and intracranial aneurysms.</p><p><b>METHODS</b>Three EDNRA gene polymorphisms (rs5335, rs6842241, and rs6841581) were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis. The genotype and allele frequencies were calculated in the patients and the control group to analyze the association between the gene and the size of aneurysms.</p><p><b>RESULTS</b>No significant difference was found in the distribution of the EDNRA gene genotypes or allele frequencies between the patients and the control subjects. Only GG genotype of rs6841581 was found to significantly correlate with the size of aneurysms.</p><p><b>CONCLUSION</b>EDNRA gene rs6841581 has significant associations with the size of intracranial aneurysms, indicating a possible role of EDNRA in the genetic mechanisms of intracranial aneurysms and subarachnoid hemorrhage.</p>