The key points in diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy / 中华神经科杂志

The diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy relies on clinical features, demyelinating changes on motor and sensory nerve conduction studies, elevated cerebrospinal fluid protein, peripheral nerve image, nerve pathology, and response to immune therapy. Each diagnostic proof should be interpreted in light of clinical background and other findings, to avoid misdiagnosis or overdiagnosis, treatment delay or unnecessary treatment with immunotherapy.

Efficacy and safety of cinepazide maleate injection in acute ischemic stroke patients with obvious motor function deficit / 中华神经科杂志

Objective:To confirm the efficacy and safety of cinepazide maleate injection in acute ischemic stroke patients with obvious motor function deficit.Methods:This study is a subgroup analysis of multi-center, randomized, double-blind, placebo-controlled phase Ⅳ clinical trial. A total 812 patients of acute ischemic stroke with obvious limb motor deficit [motor function of limbs score in National Institutes of Health Stroke Scale (NIHSS) ≥4] were enrolled in this subgroup analysis. Patients received either cinepazide maleate injection or placebo. The treatment period was 14 days and follow-up was 90 days. The efficacy endpoints included the proportions of patients with a modified Rankin Scale (mRS) score ≤2, mRS score ≤1 and Barthel Index <95 on day 90. Safety was evaluated by recording all adverse events, monitoring vital signs, laboratory parameters and electrocardiogram.Results:A total of 732 patients were involved in the final efficacy analysis (361 in cinepazide maleate group and 371 in control group). The baseline limb motor function score of NIHSS was 5.23±1.43 in the cinepazide maleate group whereas 5.20±1.36 in the control group. Logistic regression analysis showed that following treatment for 90 days, the proportion of patients with a mRS score ≤2 was significantly higher in the cinepazide maleate group than in the control group [56.0% (202/361) vs 44.2% (164/371), OR=0.60, 95% CI 0.44-0.82, P=0.002]. The proportion of patients with a mRS score ≤1 was higher in the cinepazide maleate group than in the control group [43.3% (139/361) vs 35.2% (118/371), OR=0.69, 95% CI 0.50-0.97, P=0.031]. The proportion of patients with a Barthel Index <95 on day 90 was significantly lower in the cinepazide maleate group than in the control group [45.2% (145/361) vs 55.2% (185/371), OR=0.64, 95% CI 0.46-0.88, P=0.007]. During the treatment and follow-up period, the incidence of the most common adverse events in the cinepazide maleate group was 50.4% (199/395). Constipation and abnormal liver function were more common, but there were no statistically significant differences between the two groups. Conclusion:Cinepazide maleate injection is superior to placebo in improving neurological function and activities of daily living, reducing disability, and promoting functional recovery and safe in patients with acute ischemic stroke with obvious limb motor deficit.

Relapse risk analysis in anti-aquaporin 4-IgG positive neuromyelitis optica spectrum disorders patients treated with immunosuppressant / 中华神经科杂志

Objective:To investigate the relapse risk factors of anti-aquaporin 4 (AQP4)-IgG positive neuromyelitis optica spectrum disorders (NMOSD) patients treated with immunosuppressant.Methods:Data (from January 2011 to June 2021) of AQP4-IgG positive NMOSD patients treated with immunosuppressant for longer than 5 years from MSNMObase, a hospital-based electronic registry for multiple sclerosis and related disorders in Peking Union Medical College Hospital, were collected. Clinical features and risk factor differences between patients with and without relapse under the immunosuppressive therapy were analyzed.Results:One hundred and twelve patients with AQP4-IgG positive NMOSD were included, 105 (93.8%) of which were female. The disease onset age was (34.9±11.3) years, 13(11.6%) had an older disease onset age than 50 years (late onset), and the disease duration was 8.1 (6.6, 11.4) years. Sixty-four (57.1%) patients had relapse, and the proportion of late onset patients was significantly lower in relapse group than in non-relapse group [4/64(6.3%) vs 9/48(18.8%), χ2=4.18, P=0.041]. Compared with those without relapse, both the annualized relapse rate (ARR) before treatment [1.07 (0.36, 2.25) vs 0.34 (0, 1.11), Z=2.92, P=0.003] and the proportion of patients with relapse before treatment [54/64(84.4%) vs 33/48(68.8%), χ2=3.86, P=0.049] were significantly higher for patients in relapse group. Multivariate Logistic regression analysis revealed the relapse risk of late-onset patients was lower than that of early-onset patients ( HR=0.26, 95% CI 0.10-0.73, P=0.010) and patients with higher ARR before treatment showed a higher risk of relapse under the immunosuppressive therapy ( HR=1.55,95% CI 1.26-1.91, P<0.001). Conclusion:AQP4-IgG positive NMOSD patients with younger disease onset age than 50 years or with frequent relapses before treatment had a higher relapse risk under the immunosuppressive therapy, and they may need highly effective treatments.

The changes in European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy / 中华神经科杂志

European Academy of Neurology/Peripheral Nerve Society revised the guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Typical CIDP and CIDP variants were distinguished. The levels of diagnostic certainty of CIDP and possible CIDP can be defined according to the changes in motor and sensory nerve conduction studies. The utility of cerebrospinal fluid, peripheral nerve image, and nerve biopsy in diagnosis of CIDP was suggested. Serum auto-antibodies, including anti-nodal and paranodal antibodies, anti-myelin-associated glycoprotein antibodies were discussed. Monoclonal protein should be tested routinely in CIDP. Principles for treatment of CIDP were recommended. This guideline updated the development in CIDP and is more suitable for clinical practice.

The Progression and Problems in Diagnosis and Treatment of Rare Neurological Diseases / 罕见病研究

Rare neurological diseases contain of a great variety of different disease and difficult to diagnose and cure. In the past years, many drugs are approved for treatment of the rare diseases, bringing hope to patients. However, these drugs are usually very expensive, so clinicians and patients have to face the delimma of the accessibility and appropriate usage of these drugs. On the other hand, there are many rare diseases could be treated by cheaper drugs. However, diagnosis of those rare diseases is challenging and clinician's lacking knowledge of the rare diseases leads to delay in diagnosis. Improving the competence in early diagnosis of rare neurological diseases is essential for the patients to live a quality life.

Anti-Leucine-Rich Glioma-Inactivated 1 Encephalitis: A Single-Center Cohort Study in China / 罕见病研究

  Objective  To evaluate the clinical and paraclinical features of Chinese patients with anti- LGI1 encephalitis.  Methods  Patients with memory deficits, psychiatric symptoms, seizures or altered level of consciousness, suspicious of encephalitis, at presentation to Peking Union Medical College Hospital were recruited between July 2013 and January 2018, and tested for anti-LGI1 antibodies in their serum and/or cerebrospinal fluid(CSF) samples. Patients with anti-LGI1 antibodies were enrolled. The demographic characteristics, clinical manifestations, laboratory examination results, neuroimaging features, immunotherapy, follow-up practices and outcomes for included patients were registered and analyzed.  Results  The study enrolled 120 patients, of whom 66.7% were male. The median age was 61 years (interquartile range [IQR]: 49-66 years). Seizures(65.0%) were the most common initial symptoms. Most patients developed seizures (95.0%), including faciobrachial dystonic seizures (54.2%), memory deficits (92.5%), and psychiatric symptoms (69.1%). Brain MRI and 18F-FDG PET / CT showed that the lesions were mainly located in unilateral or bilateral medial temporal lobes, and (or) basal ganglia. Of the patients, 95.0% received intravenous immunoglobulin (IVIg) or corticosteroids, 47.5% received mycophenolate mofetil as long-term immunotherapy, and no one received second-line immunotherapy. The median follow-up was 34.2 months(IQR: 22.0-45.6 months). 91.2% had a good outcome (modified Rankin Scale score≤2 points). Residual mild memory deficits were present in 47.8% of the patients. Nine deaths were documented. Relapses occurred in 24.8% of the patients in the first year. In total, 24 (20%)cases were young patients(onset age ≤45 years).There were fewer males among the younger patients(37.5% vs. 74.0%, P < 0.01). Besides, there were fewer younger patients with psychiatric symptoms(50.0% vs. 74.0%, P=0.02), hyponatremia(33.3% vs. 68.8%, P < 0.01), and abnormalities on brain 18F-FDG PET/CT(20.8% vs. 47.9%, P=0.02). The relapse-free survival rate was significantly higher in the young patients.  Conclusions  Elderly males were predominant in patients with anti-LGI1 encephalitis. Most patients developed symptoms of limbic encephalitis and/or FDBS during the disease course. Several patients were young adults and lacked typical symptoms. Neuroimaging features were consistent with the involvement of limbic system or basal ganglia. Patients with anti-LGI1 encephalitis respond well to immunotherapy, irrespective of the age.

Spinal Muscular Atrophy: History, Current Status and Future / 罕见病研究

It has been a hundred years since the first case of spinal muscular atrophy(SMA) was reported in the medical literature. In its 100 years of history, medical development for the cure of SMA has gone through many stages, from clinical manifestation description, accumulation of cases, disease classification exploration to pathogenic gene mapping and cloning, clinical application of gene diagnosis, animal model establishment then to R&D of disease modifying drugs and clinical use of novel therapies. The future of the development lies in breakthrough in pathophysiological mechanism, carrier screening and precise prevention, as well as new therapies. As a representative of monogenic rare diseases, review the history of the progress in diagnosis and treatment and R&D in medications and discuss the prospect of further development in the future is instrumental in leading the continued advancement of the whole cause of rare disease.

Anti-amphiphysin-associated paraneoplastic brainstem encephalitis with esophageal neuroendocrine carcinoma: a case report / 中华神经科杂志

Paraneoplastic neurological syndromes (PNS) are heterogeneous disorders caused by autoimmune responses of cancer, which can affect any part of the nervous system. Anti-amphiphysin antibody is one of the high-risk PNS antibodies, which is usually associated with small cell lung cancer and breast cancer. However, extrapulmonary neuroendocrine carcinoma is rare in patients with anti-amphiphysin antibody. A case of anti-amphiphysin-associated paraneoplastic brainstem encephalitis with esophageal neuroendocrine carcinoma is reported. The tumor was detected by fluorine 18 fluorodeoxyglucose positron emission tomography and pathologically confirmed by gastroscopic biopsy. The patient′s neurological symptoms were partially improved after treatment of intravenous immunoglobulin and glucocorticoids. However, the disease prognosis is closely related to the accompanying tumor.

Minutes of the 24th National Conference of Neurology of Chinese Medical Association / 中华神经科杂志

The 24th National Conference of Neurology of Chinese Medical Association was held in Zhuhai City, Guangdong Province during September 23-26,2021.The conference adopted a combination of online and offline methods, with a total of 2 plenary meetings, 20 special seminars, 284 invited reports, 382 papers exchanged at the conference and 1 088 papers exchanged on the wall. The conference focused on cerebrovascular diseases, epilepsy, cognitive disorders, myopathy, peripheral neuropathy, neurodegenerative diseases, nerve infectious diseases, demyelinating diseases, neuroimmune diseases, genetic and metabolic nerve diseases, nerve rehabilitation, anxiety and depression, headache, sleep disorders, nerve nursing, nerve intervention, neuroimaging, neuroelectrophysiology, translational medicine, precision medicine and other related nervous system diseases. There were more than 7 000 participants who attended this conferece.

Effects of cinepazide maleate injection on blood pressure in patients with acute ischemic stroke and hypertension / 中华内科杂志

Objective:To investigate the blood pressure change in patients with acute ischemic stroke (AIS) and hypertension treated with cinepazide maleate injection.Methods:This was a subgroup analysis of post-marketing clinical confirmation study of cinepazide maleate injection for acute ischemic stroke: a randomized, double-blinded, multicenter, placebo-parallel controlled trial, which conducted in China from August 2016 to February 2019. Eligible patients fulfilled the inclusive criteria of acute anterior circulation ischemic stroke with National Institutes of Health Stroke Scale (NIHSS) scores of 7-25. The primary endpoints were mean blood pressure of AIS patients treated with cinepazide maleate or control, which were assessed during the treatment period (14 days), and the proportion of the patients with normal blood pressure was analyzed after the treatment period. Furthermore, a subgroup analysis was performed to investigate a possible effect of the history of hypertension on outcomes.Results:This analysis included 809 patients with hypertension. There was no significant difference in patients blood pressure and the proportion of patients with normal blood pressure (60.5% vs. 59.0%, P>0.05) between cinepazide maleate group and control group. Conclusion:Administration of cinepazide maleate injection does not affect the management of clinical blood pressure in patients with AIS.

Progress in diagnosis and treatment of antibody-related autoimmune cerebellar ataxia / 中华神经科杂志

Cerebellar ataxia mediated by autoimmune mechanisms is a common cause of sporadic cerebellar ataxia. According to the presence of underlining malignancy, autoimmune cerebellar ataxia (ACA) can be divided into paraneoplastic ACA and non-paraneoplastic ACA. The typical manifestations of various types of ACA include gait disorder, limb and trunk ataxia, mild inflammatory response and specific oligoclonal bands in cerebrospinal fluid. Immunosuppressive therapy might be effective. Anti-neuronal antibodies are of great significance to the diagnosis of ACA, and the discovery of the new antibody profile has promoted a deeper understanding of ACA. This article reviews the clinical features and progress of diagnosis and treatment of ACA.

Recent research focus in peripheral neuropathy / 中华神经科杂志

Peripheral neuropathy consists of a group of diseases due to different pathogenesis. This article discussed the recent research focus in four categories of peripheral neuropathies, including immune mediated neuropathy, diabetic neuropathy, hereditary neuropathy and chemotherapy-induced neuropathy.

Clinical analysis of anti-N-methyl-D-aspartate receptor encephalitis patients with cerebellar ataxia / 中华神经科杂志

Objective:To analyze and summarize the clinical characteristics of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis patients with cerebellar ataxia.Methods:The clinical manifestations, laboratory examinations, treatment and prognosis of anti-NMDAR encephalitis patients with cerebellar ataxia diagnosed and treated in Peking Union Medical College Hospital from 2011 to 2019 were retrospectively analyzed.Results:About 4.3% (15 cases) of a total of 347 anti-NMDAR encephalitis patients were complicated with cerebellar ataxia, of which one patient had ovarian teratoma. There were seven male cases and eight female cases, with a median age of 28 years. The average duration from the onset of encephalitis to the onset of cerebellar symptoms was 30.8 days.The average modified Rankin Scale (mRS) score was 3.73. In the acute phase, the median cerebrospinal fluid leukocyte count was 28×10 6/L. All patients received first-line immunotherapy, of which one case additionally received second-line immunotherapy with rituximab and nine patients received long-term immunotherapy with mycophenolate mofetil. The follow-up time ranged from seven to 66 months. The average mRS score of the last time was 2.73, and only six patients (6/15) had good prognosis (mRS score≤2). Conclusions:Patients with anti-NMDAR encephalitis and cerebellar ataxia are rare, and have relatively poor prognosis in terms of neurological function. Symptoms of cerebellar ataxia in anti-NMDAR encephalitis patients should be recognized in time, and standardized immunotherapy regimens and long-term immunotherapy should be adopted to improve the prognosis.

Clinical and laboratory findings of patients with anti-dipeptidyl-peptidase-like protein 6 encephalitis: two cases report / 中华神经科杂志

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.

Study on the correlation between mesencephalic structural characteristics and motor function in patients with cerebral small vessel disease / 中华神经科杂志

Objective:To explore whether there were changes in midbrain morphology related to motor function in patients with cerebral small vessel disease (CSVD).Methods:The study was conducted on a subset of patients with CSVD registered at the Department of Neurology of Peking Union Medical College Hospital from 2010 to 2018. All magnetic resonance imaging images were taken with a 3.0 T nuclear magnetic resonance imager. The measurement of anteroposterior diameter of the mesencephalon and the tegmentum of mesencephalon was performed on a personal computer with the image processing software RadiAnt DICOM Viewer. Several clinical manifestations of dyspraxia, dysphagia, dysarthria and dysuria were evaluated by interviewing the patient and family members living with the patient. Kinect depth camera combined with self-developed software platform was used to conduct quantitative evaluation of patients′ motor function. Three parameters, namely walking speed, walking time of three meters and time of standing up and sitting down, were selected from the obtained parameters. SPSS 17.0 software was used for statistical analysis.Results:A total of 176 patients were included, aged 30-88 (64.16±11.57) years. One hundred and fifteen patients were males, accounting for 65.34%. In patients with CSVD, anteroposterior diameter of the mesencephalon and the tegmentum of mesencephalon were negatively correlated with age ( B=-0.032, P<0.001; B=-0.020, P=0.006). The anteroposterior diameter of the mesencephalon was negatively correlated with symptoms of dyskinesia ( OR=0.006, 95% CI 0-0.135, P=0.001), even when the age and gender were adjusted ( OR=0.014,95% CI 0-0.416, P=0.013). The anteroposterior diameter of the mesencephalon was negatively correlated with symptoms of dysuria ( OR=0.046,95% CI 0.002-0.936, P=0.045), but no longer correlated when the age and gender were adjusted. The anteroposterior diameter of tegmentum of mesencephalo was also negatively correlated with symptoms of dyskinesia ( OR=0.035,95% CI 0.002-0.684, P=0.027), but no longer correlated after adjusting for age and gender. Video recording and evaluation of motor function were performed on 87 patients. Spearman correlation analysis showed that none of the three motor function scores was correlated with age or gender. The anteroposteric diameter of the midbrain was positively correlated with walking speed ( r=0.231 ,P=0.040) and negatively correlated with walking time of three meters ( r=-0.304, P=0.005), but not with standing up and sitting down time, while the anteroposteric diameter of tegmentum of mesencephalo was not correlated with all of them. Conclusion:There are changes in mesencephalon morphology in patients with CSVD, structural parameters of mesencephalon are related to motor function and urination function, and mesencephalon atrophy may be an independent related factor for symptoms of dyskinesia in patients with CSVD.

Clinical characteristics in 40 patients with longitudinally extensive transverse myelitis and connective tissue disease / 中华内科杂志

Objective:Longitudinally extensive transverse myelitis (LETM) could be seen in patients with connective tissue disease (CTD), especially systemic lupus erythematosus (SLE) or primary Sj?gren′s syndrome (pSS). Some patients are combined with neuromyelitis optica spectrum disorders (NMOSD)(termed CTD-LETM-NMOSD) while others without (termed CTD-LETM-non-NMOSD). The aim of this study is to compare the clinical characteristics of CTD-LETM-NMOSD patients to CTD-LETM-non-NMOSD patients.Methods:We retrospectively collected data from 40 CTD patients with LETM who were admitted to the Department of Neurology or Rheumatology at Peking Union Medical College Hospital from Jan, 2006 to Dec, 2016. They were divided into CTD-LETM-NMOSD and CTD-LETM-non-NMOSD two groups. Demographic characteristics, clinical and laboratory features were obtained from the database. Relapse rates and clinical outcome were analyzed by Kaplan-Meier method.Results:Among 40 patients with CTD, 28 (70.0%) were NMOSD while 12 (30.0%) were not. The positivity rates of anti-SSA, antibodies to aquaporin-4 (anti-AQP4) were significantly higher in patients with NMOSD than those in patients with non-NMOSD ( P<0.05). Age, gender, clinical features, disease duration, anti-double-stranded DNA antibody, anti-ribosomal P antibody, antiphospholipid antibodies, expanded disability status scale (EDSS) scores, and magnetic resonance imaging (MRI) features were all comparable between two groups. CTD-NMOSD patients had significantly higher disease relapse rate (75.0% vs. 3/12, P<0.01). Conclusion:Anti-SSA and anti-AQP4 positivity is associated with NMOSD and higher relapse rates, which suggests that NMOSD in CTD-LETM patients may represent distinct characteristics and pathogenesis from patients with CTD-LETM-non NMOSD.

The 477th case: muscular spasms, alopecia, diarrhea / 中华内科杂志

Diarrhea is a common digestive symptom. Here, we reported a case of young patient admitted with diarrhea caused by lead poisoning and cytomegalovirus infection. Through informative medical history and multi-disciplinary team discussion, Satoyoshi syndrome was finally diagnosed.

Changes of tau protein in cerebrospinal fluid of sporadic Creutzfeldt-Jakob disease / 中华神经科杂志

Objective@#To evaluate the value of cerebrospinal fluid markers expecially total-tau protein (T-tau), phosphorylated-tau protein (P-tau) in diagnosis and differentiation of sporadic Creutzfeldt-Jakob disease (sCJD).@*Methods@#sCJD (according to 2009 Brain criteria, 2018 Neurology amended criteria), Alzheimer's disease (AD; the National Institute on Aging at National Institutes of Health and the Alzheimer's Association revised guidelines 2011 criteria) and other patients without cognitive impairment, matched for sex and age, in the Department of Neurology, Peking Union Medical College Hospital from 2018 to 2019 were enrolled. Twelve sCJD patients, 49 AD patients and 14 normal controls were enrolled. Cerebrospinal fluid (CSF) specimens were collected through gravity dropping directly, and further stored in -80 ℃ and disposed according to widely used standards. The levels of T-tau and P-tau were measured by ELISA. The data on electroencephalogram and neuroimaging findings of sCJD patients were recorded. Moreover, specimens of sCJD patients were sent to the Chinese Center for Disease Control and Prevention to test 14-3-3 protein and PRNP genotype.@*Results@#Using Mann-Whitney U test, T-tau concentrations were found higher in patients with sCJD (1 211(448, 2 227) pg/ml) than in AD patients (549(314, 1 078) pg/ml; U=178, P=0.034 9), and both groups had higher T-tau than the control group (127(79, 192) pg/ml; U=20, 73, P<0.01). The level of P-tau was significantly increased in AD patients (72(58,109) pg/ml) compared to the control group (27(15, 42) pg/ml; U=82, P<0.01), but not in sCJD patients (32(24, 47) pg/ml). The T-tau/P-tau ratio was higher in sCJD patients (29.77(20.01, 54.53)) than in AD patients (7.45(4.79, 10.43); U=87, P<0.01). Twelve sCJD patients had cotical hyperintensity on diffusion weighted imaging and five had periodic three-phase waves on electroencephalogram. Nine sCJD patients, whose CSF samples were tested in the Chinese Center for Disease Control and Prevention, carried an M/M genotype at codon 129 and E/E at codon 219.@*Conclusion@#The CSF tau level and T-tau/P-tau ratio are significantly increased in sCJD, which may promote the diagnosis and differentiation of sCJD in routine clinical setting.

Standardization and individualization of diagnosis and treatment of autoimmune encephalitis / 中华神经科杂志

Standardization and individualization are two important aspects in the diagnosis and treatment of autoimmune encephalitis. The Chinese expert consensus on the diagnosis and management of autoimmune encephalitis (2017) is the major reference for neurological practice in China, while individualization of treatment is mainly based on the specific types of autoimmune encephalitis and the dynamic observation of clinical response and immune parameters. The results of recent clinical research provide evidence for new treatment strategy.

Neurofilament and amyotrophic lateral sclerosis / 中华神经科杂志

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, stimultaneously affecting cerebral pyramidal cells, motor nuclei in the brain stem, anterior horn cells of the spinal cord, and the pyramidal tract. The early diagnosis of ALS is very difficult. At present, it still lacks efficacious therapy. Its prognosis is poor, with the median survival time for about 3-5 years. The study and discovery of ALS-specific biomarkers for early diagnosis are critical to shorten diagnostic delay, explore and elucidate pathogenesis, monitor disease progression and predict prognosis. In recent years, studies have shown that the neurofilament plays an important role in the aspects above, and at present, it is considered as the most clinically valuable and promising biomarker for ALS. Thus, the article provides a review about research on neurofilament and ALS.