Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay / 中华医学遗传学杂志

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare and early-onset neurodegenerative disease caused by variants of the SACS gene which maps to chromosome 13q11 and encodes sacsin protein. Sacsin is highly expressed in large motor neurons, in particular cerebellar Purkinje cells. This article has provided a review for the structure and function of sacsin protein and the mechanisms underlying abnormalities of sacsin in ARSACS disease.

Clinical Features and Differences of Miller Fisher Syndrome in Southern China: Retrospective Analysis of 72 Patients in 13 Provinces of Southern China

Background@#and Purpose We aimed to determine the clinical features of Miller Fisher syndrome (MFS) in southern China and compare them with those presenting in other countries. @*Methods@#We collected the medical records of patients diagnosed with MFS during 2013–2016.We analyzed the age, sex, onset season, precursor events, clinical symptoms and signs, findings of nerve conduction studies (NCS), cerebrospinal fluid (CSF), therapeutic remedies, nadir time, and length of hospital stay of patients with MFS in southern China. We concurrently compared the differences between urban and rural areas and between patients with incomplete ophthalmoplegia (IO) and complete ophthalmoplegia (CO). @*Results@#The study enrolled 72 patients: 36 from rural areas and 36 from urban areas, and 50 males and 22 females. The mean age at onset was 47.72 years, and 30 (41.7%) and 21 (29.2%) patients developed MFS in spring and winter, respectively. The typical triad of ophthalmoplegia, ataxia, and areflexia was observed in 50 (69.4%) patients. A history of upper respiratory tract infection 1 week before onset was found in 52.8% of the patients, while 5.6% experienced gastrointestinal infections and 48 (73.8%) exhibited albuminocytological dissociation in the CSF study. Only 26 (36.1%) patients presented abnormalities in NCS. Moreover, restricted outward eyeball movement presented in 83.5% of the patients with classic MFS and acute ophthalmoplegia, and bilateral symmetrical ophthalmoplegia presented in 64.2%. With the exception of the higher proportion of NCS abnormalities in urban areas (47.2% vs. 25.0%), urban and rural differences were insignificant regarding sex ratio, age at onset, high-incidence season, precursor events, disease characteristics, and albuminocytological dissociation in the CSF. Furthermore, patients with CO were older than those with IO (64.53±7.69 vs. 43.19±14.40 years [mean±standard deviation], p<0.001). @*Conclusions@#The patients with MFS were mostly male and middle-aged, and most presented in winter and (especially) spring. More than half of the patients had clear precursor events, most of which were classic MFS with the typical triad. More than 70% of the patients presented albuminocytological dissociation in the CSF. NCS abnormalities were uncommon in MFS. The age at onset was lower in patients with IO than in patients with CO; bilateral symmetrical extraocular muscle paralysis was the most common symptom, and the external rectus was the most frequently involved muscle.

Drug-induced peripheral neuropathy / 中华神经科杂志

There are many causes of peripheral neuropathy, one of which is that caused by various therapeutic drugs, namely drug-induced peripheral neuropathy (DIPN). With the increasing number of cancer patients, chemotherapy-induced peripheral neuropathy (CIPN) is prominent. Most of DIPN showed chronic, sensory and axonal polyneuropathy, and numbness and neuropathic pain were the main symptoms. The medical history of drug exposure and related risk factors are the key to clinical diagnosis. DIPN caused by non-chemotherapy drugs must be stopped in time to prevent further dysfunction. For CIPN, no agents are recommended for the prevention; the appropriateness of dose delaying and reduction, substitutions or stopping chemotherapy should be evaluated; duloxetine is the only agent that has appropriate evidence to support its use, whereas the amount of benefit is limited. It is urgent to perform the multidisciplinary randomized clinical trial for the treatment of CIPN.

Status quo of the treatment of spinocerebellar ataxia towards its pathogenesis / 中华医学遗传学杂志

Spinocerebellar ataxia (SCA) is a group of autosomal dominant hereditary diseases. Based on their inheritance pattern, they can be divided into SCAs caused by expansion of microsatellite repeats or point mutations. Although SCAs may be diagnosed based on their clinical characteristics and results of genetic testing, their treatment still remains as a challenge. So far no drug has been approved by the US Food and Drug Administration or the European Medicines Agency. Strict preclinical trials are critical for the development of disease-modifying drugs.

Use of Magnetic Resonance Neurography for Evaluating the Distribution and Patterns of Chronic Inflammatory Demyelinating Polyneuropathy

OBJECTIVE: To evaluate the distribution and characteristics of peripheral nerve abnormalities in chronic inflammatory demyelinating polyneuropathy (CIDP) using magnetic resonance neurography (MRN) and to examine the diagnostic efficiency.MATERIALS AND METHODS: Thirty-one CIDP patients and 21 controls underwent MR scans. Three-dimensional sampling perfections with application-optimized contrasts using different flip-angle evolutions and T1-/T2- weighted turbo spin-echo sequences were performed for neurography of the brachial and lumbosacral (LS) plexus and cauda equina, respectively. Clinical data and scores of the inflammatory Rasch-built overall disability scale (I-RODS) in CIDP were obtained.RESULTS: The bilateral extracranial vagus (n = 11), trigeminal (n = 12), and intercostal nerves (n = 10) were hypertrophic. Plexus hypertrophies were observed in the brachial plexus of 19 patients (61.3%) and in the LS plexus of 25 patients (80.6%). Patterns of hypertrophy included uniform hypertrophy (17 [54.8%] brachial plexuses and 21 [67.7%] LS plexuses), and multifocal fusiform hypertrophy (2 [6.5%] brachial plexuses and 4 [12.9%] LS plexuses) was present. Enlarged and/or contrast-enhanced cauda equina was found in 3 (9.7%) and 13 (41.9%) patients, respectively. Diameters of the brachial and LS nerve roots were significantly larger in CIDP than in controls (p < 0.001). The largest AUC was obtained for the L5 nerve. There were no significant differences in the course duration, I-RODS score, or diameter between patients with and without hypertrophy.CONCLUSION: MRN is useful for the assessment of distribution and characteristics of the peripheral nerves in CIDP. Compared to other regions, LS plexus neurography is more sensitive for CIDP.

The experience of diagnosis and treatment of neurological diseases combined with COVID-19: analysis of five cases / 中华神经科杂志

Objective:To investigate the clinical characteristics, diagnosis and treatment of neurological diseases combined with COVID-19.Methods:The data of five patients of neurological diseases combined with COVID-19 (including two suspected cases) in the Department of Neurology, Renmin Hospital of Wuhan University from January 1, 2020 to February 24, 2020 were retrospectively collected. The epidemiology, clinical manifestations, laboratory and radiologic characteristics, diagnosis, treatment and outcomes of these cases were described and analyzed.Results:Among the five patients, three were confirmed cases and two were suspected cases with a history of indirect contact with confirmed cases of COVID-19. The age of these patients was (76.4±9.3) years. Neurological diseases included cerebral infarction in two cases, cerebral hemorrhage, Guillain-Barre syndrome and Alzheimer′s disease each in one case. There were one acute case and one chronic case, and three patients were in the sequelae stage of acute diseases. One patient had an open airway as a result of Guillain-Barre syndrome. There were four cases of limb paralysis, half of whom were hemiplegic and quadriplegic respectively. The initial symptom was fever in all cases, and they showed a decrease in lymphocyte count. Four patients with chest computed tomographic scans showed bilateral lung lesions, of whom two cases showed multiple lung patches and ground glass shadows. Tests for 2019 novel coronavirus nucleic acid were positive in three patients and negative in two. The time from onset of COVID-19 to diagnosis was (6.6±5.6) d. As of February 24, two patients died and the remaining were still hospitalized.Conclusions:Neurological diseases, especially in elderly patients with limb paralysis, open airways and stroke, can be complicated by COVID-19, of which the prognosis is poor. Neurologists need to identify this situation early and pay attention to strengthening protection.

Association between electromyography and magnetic resonance neurography in patients with typical chronic inflammatory demyelinating polyradiculoneuropathy / 中华神经科杂志

Objective@#To explore the association among clinical features, electromyography (EMG) and magnetic resonance neurography (MRN) in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). @*Methods@#A cross-sectional survey was conducted to enroll consecutively typical CIDP patients in Renmin Hospital of Wuhan University from May 2017 to May 2019. The Hughes Disability Scale (HDS) was used to evaluate the illness severity of the patients. The electrodiagnostic parameters including motor conduction velocity (MCV), compound muscle action potential (CMAP), F-wave latency, sensory nerve conduction velocity (SCV) and sensory nerve action potential (SNAP) of upper and lower limbs were analyzed. The patients whose response waveform can be elicited in all nerves were defined as group A, and those without response in one or more nerves as group B. MRN quantitative technique was used to calculate the cross-sectional area of nerves roots (nr-CSA) of brachial plexus and lumbosacral plexus. The linear regression method was used to analyze the correlation among clinical features, EMG and nr-CSA. @*Results@#A total of 32 patients with typical CIDP met the criteria, 75% (24/32) of whom were males. There were 16 patients in the mild group (group A) and 16 in the severe one (group B). The abnormal rate of F-wave latency was the highest. Cerebrospinal fluid (CSF) protein, HDS score were correlated significantly with the nr-CSA of brachial plexus and lumbosacral plexus in the two groups (group A: CSF protein and brachial plexus nr-CSA: r=0.498, P=0.004; CSF protein and lumbosacral plexus nr-CSA: r=0.479, P=0.007; HDS score and brachial plexus nr-CSA: r=0.650, P=0.000; HDS score and lumbosacral plexus nr-CSA: r=0.625, P=0.000. group B: CSF protein and brachial plexus nr-CSA: r=0.497, P=0.049; CSF protein and lumbosacral plexus nr-CSA: r=0.503, P=0.047; HDS score and brachial plexus nr-CSA: r=0.605, P=0.001; HDS score and lumbosacral plexus nr-CSA: r=0.648, P=0.000). MCV of median nerve and ulnar nerve was negatively correlated with nr-CSA of brachial plexus in the two groups (group A: MCV of median nerve and nr-CSA of brachial plexus: r=-0.309, P=0.019; MCV of ulnar nerve and nr-CSA of brachial plexus: r=-0.286, P=0.027. group B: MCV of median nerve and nr-CSA of brachial plexus: r=-0.660, P=0.000; MCV of ulnar nerve and nr-CSA of brachial plexus: r=-0.581, P=0.001). The F-wave latencies of median and ulnar nerves were positively correlated with nr-CSA of brachial plexus, and the CMAP amplitude of tibial nerve and SNAP amplitude of sural nerve were positively correlated with nr-CSA of lumbosacral plexus in group B. @*Conclusions@#Male patients with CIDP are predominant. The higher the nr-CSA in brachial plexus and lumbosacral plexus, the higher the CSF protein and disability score, and the larger the nr-CSA in brachial plexus, the slower the MCV in the median and ulnar nerve. For group B patients with more severe nerve injury, the larger nr-CSA of brachial plexus was, the longer F-wave latency of median and ulnar nerve was, and the larger nr-CSA of lumbosacral plexus was, the lower CMAP amplitude of tibial nerve and SNAP amplitude of sural nerve were. As a non-invasive test, MRN can be used to assist in the diagnosis of CIDP and to assess the severity of the disease.

Screening for abnormal angle of trunk rotation among adolescents in Yichang city / 中华全科医师杂志

Total 3 483 students in 4 to 9 grade from primary and middle school in Xiling District of Yichang city were selected by stratified cluster random sampling method between September and October 2016 to participate in screening for abnormal angle of trunk rotation(ATR),including 1 797 boys and 1 686 girls aged 9-15 years.The ATR was measured with Scoliometer and the ATR >5°was defined as abnormal.The overall abnormal ATR rate was 7.60%(265/3 483), that in boys was 4.73%(85/1797)and in girls was 10.68%(180/1 686)(χ2=43.75,P<0.05).The abnormal ATR rate in age group 13-15 was higher than that in age group 9-12[10.62%(159/1 496)vs.5.33%(106/1 987),χ2=36.92,P<0.01].Students with low BMI had higher abnormal ATR rate than that with normal or higher BMI(χ2=30.00,P<0.01);and students with left handedness had lower abnormal ATR rate than that with right handedness or double handedness(χ2=6.59,P=0.04).The abnormal ATR rate was not associated with dietary habits or sports in the daily life of students.The results show that gender,age,BMI and handedness affect abnormal rate of ATR.

Clinical features and validation of Brighton criteria in Guillain-Barré syndrome in southern China:retrospective analysis of 1358 hospitalized patients in four years / 中华神经科杂志

Objective To analyze the clinical features and validation of Brighton criteria in Guillain-Barré syndrome (GBS) patients from southern China.Methods The clinical data of hospitalized GBS patients from 69 hospitals of 14 provinces/cities in southern China,the area south of the Huaihe River,between 1 January 2013 and 30 September 2016,were collected and analyzed retrospectively,and patients were classified according to the Brighton criteria of case definition,ranging from a highest (defined as level one) to a lowest (level four) level of diagnostic certainty.Results A total of 1 358 GBS patients were collected,including 51 cases with cranial nerve variants,157 with Miler-Fisher syndrome and 1 150 with classic GBS characterized by flaccid weakness of limbs.Among 1 150 cases of classic GBS,49.57％ (570/1 150) patients had antecedent events,with respiratory infection predominated (71.23％,406/570);83.74％ (963/1 150) presented limb weakness at onset,99.21％ (1 124/1 133) reached the peak within four weeks,with a score of 3.15 ± 1.16 for Hughes Disability Scale;99.56％ (1 128/1 133)developed bilateral weakness and 95.39％ (1 097/1 150) manifested flexia or hyporeflexia;the cerebrospinal fluid showed albuminocytologic dissociation in 80.58％ (772/958) patients whose lumbar puncture was performed;demyelinating GBS accounted for 48.14％ (401/833) and axonal subtype 18.01％ (150/833) respectively in patients with findings of nerve conduction studies available.According to Brighton criteria,the patients were stratified as level one in 44.09％ (507/1 150),level two in 45.74％ (526/1 150),level three in 7.57％ (87/1 150) and level four in 2.61％ (30/1 150) of all the patients,and 69.55％ (507/729),28.67％ (209/729),0％ (0/729) and 1.78％ (13/729),respectively in the patients with complete data (n =729).Conclusions In southern China,demyelinating subtype of GBS is predominant,whereas the proportion of axonal subtype is remarkably lower than that in northern China.The Brighton criteria have a high sensitivity for the diagnosis of GBS in southern China,and examination of cerebrospinal fluid and electrodiagnostic studies are necessary for stratified diagnosis.

The impact of botulinum toxin on the anxiety and depression in patients with hemifacial spasm and blepharospasm / 中国神经精神疾病杂志

Objective To explore anxiety and depression status in patients with hemifacial spasm (HFS) and benign essential blepharospasm (BEB), and the change after botulinum toxin type A (BTX-A) therapy. Methods Ninety idiopathic HFS patients and 90 BEB patients. The anxiety and depression statud was evaluated by using SAS and SDS before and after the injection of BTX-A. Results Before treatment, the SAS and SDS standard scores of the HFS patients were 41.25 ±6.35and 42.25 ±7.57, respectively. The SAS scores were 40.17 ± 8.36 in the male and 43.56 ± 6.10in female(P=0.031). The SDS scores were 40.25 ± 6.46 in the male and 45.48 ± 7.31 in the female(P=0.008). After treatment, the SAS and SDS standard scores were 30.12 ± 4.35(P=0.000)and 30.58 ± 4.89(P=0.000)respectively. There was significant difference inbetween before and after treatment. In BEB patients, before treatment, The SAS standard scores were 58.90±10.61, 58.78±9.89. The SAS of the male and female patients scored 56.45 ± 8.75, 60.89 ± 9.11 (P=0.017), The SDS of the male and female patients scored 57.90 ± 7.93, 60.12 ± 8.35 (P=0.011)respectively. After treatment, the SAS standard score were 38.17 ± 3.67 (P=0.000), and the SDS standard score were 38.12 ± 4.15 (P=0.001)respectively. these two scores were significantly different between before and after treatment. Conclusion HFS and BEB patients, especially female patients are associated with anxiety and depression. BTX-A can improve the symptoms of anxiety and depression.

The expression of serummiR-151a-3p in patients with acute cerebral infarction and its correlation with pro-inflammatory factors / 中华危重病急救医学

Objective To investigate the clinical significance of serum microRNA-151a-3p (miR-151a-3p) expression in peripheral blood of patients with acute cerebral infarction (ACI), and to analyze the correlation between miR-151a-3p and related inflammatory factors, in order to obtain new evidence and ideas in the diagnosis and treatment of ACI. Methods A retrospective analysis was conducted. The clinical data of patients with ACI admitted to Department of Neurology of People's Hospital of Wuhan University from April to July in 2004 were enrolled. 114 ACI patients with first onset and duration of 2-14 days served as the research objects, and in the same period 58 healthy persons with matched age, and gender served as healthy control group. The risk factors of cerebral infarction in ACI patients and levels of serum miR-151a-3p, interleukins (IL-6, IL-8), C-reactive protein (CRP), tumor necrosis factor-α (TNF-α) in all the subjects were completely recorded. The correlation between serum miR-151a-3p and the area and type of cerebral infarction, the causes of infarction as well as the inflammatory cytokines was analyzed. The correlation of 10-year survival rate of patients with different expression levels of miR-151a-3p in patients with ACI was analyzed. Results A total of 114 patients with ACI were enrolled, with 59 male, 55 female, and age ranged 48-63 years with a mean of (55.0±6.7) years. Large infarction was found in 25 cases, middle sized infarction in 26 cases, small infarction in 53 cases, and lacunar infarction in 10 cases. According to the modified Trial of Org 10172 in acute stroke treatment (TOAST), the patients were classified as thrombotic cerebral infarction (AT) 92 cases, embolism (CE) from cardiac origin 10 cases, and small arterial occlusive cerebral infarction (SAD) 12 cases. After eliminating the influence of cerebral infarction risk factors on the expression level of miRNAs, and compared with that of healthy control group, the level of serum miR-151a-3p expression was significantly increased in ACI group (2-ΔΔCt: 2.28±1.85 vs. 1.27±0.98, P 0.05). The levels of serum IL-6, IL-8, CRP and TNF-α in ACI group were all higher than those of healthy control group [IL-6 (ng/L): 45.21±14.33 vs. 39.70±13.15, IL-8 (μg/L): 29.12±14.92 vs. 22.50±10.12, CRP (mg/L): 6.61±3.02 vs. 5.40±2.75, TNF-α (ng/L): 65.20±16.14 vs. 55.70±14.35, all P < 0.05]. In addition, higher expression of serum pro-inflammatory mediators IL-6, IL-8, CRP and TNF-α were positively correlated with miR-151a-3p (R2 value were 0.092, 0.055, 0.034, 0.036, all P < 0.05). Ten-year survival rate was higher in patients with low expression of miR-151a-3p [with 1.27±1.98 as the boundary, 48.57% (17/35) vs. 34.18% (27/79), log-rank = 3.411, P = 0.045]. Conclusions Up-regulated serum miR-151a-3p may be involved in the pathophysiology of ACI. Therefore, miR-151a-3p may be used as a reference to predict the severity of neurological deficit in clinic.

Clinical features and correlative factors of Parkinson’s disease patients with REM sleep behavior disorder / 中国神经精神疾病杂志

Objective To analyze the clinical features of rapid eye movement sleep behavior disorder (RBD) in pa?tients with Parkinson’s disease (PD) and investigate correlative factors of RBD. Methods Sixty-three consecutive PD pa?tients were included and classified into PD+RBD group (n=28) and PD-RBD group (n=35) according to REM Sleep Be?havior Disorder Questionnaire (RBDQ-HK). The degree of motor symptoms was compared using Unified Parkinson Dis?ease Rating Scale (UPDRS) and Hoehn&Yahr (H-Y) grade, the incidence of non motor symptoms was compared using non motor symptoms questionnaire (NMSquest), and the cognitive function, anxiety, depression, daytime sleep were com?pared using Montreal Cognitive Assessment (MOCA), Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI), Epworth Sleep Scale (ESS) between the two groups. Results The incidence of RBD in PD patients was 44.4% (28/63). There were longer illness course ( χ2=12.733, P=0.002), older age (t=-2.292, P=0.025), and higher H-Y grades (χ2=7.014, P=0.008) in PD+RBD group, compared with those in PD-RBD group, but there were no significant differences in sex, onset age, onset form and levodapa dose equivalents (LDE) between the two groups. There were higher UPDRSⅡ,Ⅲ scores (t=-2.734, P=0.008; U=3.329, P=0.001) in PD+RBD group. Most of the non motor symptoms, including the gastrointestinal dysfunctions, psychiatric comorbidity and sleep disturbances were more frequent in PD+RBD group (P<0.05), and the incidence of anxiety and depression were higher (χ2=3.958, P=0.047; χ2=10.338, P=0.001), whereas there were no significant differences in cognitive function and daytime sleep between the two groups. In addition, constipation (OR=7.257), illness course (OR=5.389), UPDRS Ⅲ scores (OR=1.060) were correlative with RBD in PD patients. Con?clusion PD patients with longer illness course, older ages, and severe motor and non motor symptoms more likely suffer from RBD. Besides, constipation, long illness course and high UPDRSⅢscores may be risk factors of RBD.

Diagnostic significance of ulnar/median compound muscle action potentials amplitude ratio in motor neuron disorders / 中华神经科杂志

Objective To investigate prospectively the diagnostic significance of ulnar/median nerve amplitude ratio in motor neuron disorders.Methods Patients referral to our department between May 2009 and February 2012,due to muscle weakness,inflexible,cramps and atrophy,were consecutively enrolled.Conventional nerve conduction studies of 4 extremities (using surface electrodes) and needle electromyography were performed in all patients with fixed examiner.The compound muscle action potentials (CMAP) were recorded from abductor digiti minimi (ADM) and abductor pollicis brevis (APB) with stimulation of ulnar and median nerve at wrist,respectively.Moreover,the ratio of CMAP amplitude between ADM and APB (ADM/APB) was calculated in the patients who met the diagnostic criteria for definite amyotrophic lateral sclerosis (ALS) and Hirayama disease (HD).The patients with Guillain-Barré syndrome (GBS) and other popyneuropathies (PN) were served as case-controls,and 34 healthy volunteers (aged (45.7 ± 16.3) years) as normal-controls.Results (1) There were 78 cases with ALS,25 HD,51 GBS and 140 other PN,with the mean age(years) of 54.7 ± 11.6,17.6 ± 2.2,41.3 ± 18.4 and 57.1 ± 14.3,respectively.(2) ADM/APB in the ALS subgroup was 2.28 ±2.87 (0.12-22.38),HD0.66±0.36 (0.05-1.34),GBS 1.42 ± 1.33 (0.25-9.85),other PN 1.36 ± 1.48 (0.08-14.44) and normal-controls 1.07 ± 0.28 (0.61-1.64,F =6.872,P =0.000),respectively.(3) The areas under receiver operator characteristic curve in patients with ALS was 0.830 (s-x =0.039) and HD 0.691 (sx =0.039,P =0.000) ; the diagnostic sensitivity and specificity for ALS patients were 36.7％ and 93.3％,respectively,with cutoff value of ADM/APB =2; and the diagnostic sensitivity and specificity for HD patients were 53.6％ and 89.0％,respectively,with cutoff value of ADM/APB =0.7.Conclusions The ulnar/median CMAP amplitude ratio increases in ALS,but decreases in HD,which may be served as a relatively specific electrophysiological index.ADM/APB amplitude ratio ＞ 2.0 is suggested to be a diagnostic parameter for ALS and ＜ 0.7 for HD.

Clinical, histopathological and genetic studies in a case of fatal familial insomnia / 中华神经科杂志

ObjectiveTo explore clinical,histopathological and genetic features in a case of fatal familial insomnia (FFI) and related literatures were reviewed. Methods The clinical features in one patient with FFI were analyzed,and the dead patient was examined at autopsy and histopathological studies were performed on the brain tissues; and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP). Results The main clinical features included intractable insomnia,psychiatric symptoms and abnormal night sleep behavior,unsteady gait,difficulty swallowing,sudden death,and positive family history. The pathological studies showed multiple neuronal loss and gliosis of brain tissues from the proband,predominated in thalamus; and analysis of PRNP revealed gene D178N mutation,and linkage with 129 methionine (Met) allele in the proband and a relative.ConclusionsFFI patients may manifest as sudden death,and may have prominent psychiatric symptoms; the corresponding gene mutation could occur in the asymptomatic carriers; the data of autopsy and brain tissue pathology is helpful for further understanding of this disease.

Clinical and electrophysiological studies of botulinmn toxin type A for hemifacial spasm complicated with auricular symptoms / 中华神经科杂志

Objective To investigate the involvement of posterior auricular muscle (PAM) and the effect of botulinum toxin type A (BTX-A) injection into PAM in patients with hemifacial spasm (HFS)complicated by auricular symptoms.Methods Sixty-three consecutive HFS patients with auricular symptoms such as tinnitus or murmur,"ticking" or a "clicking" sound and discomfort on the same side,referred to our department between July,2009 and January,2010,were enrolled,and the diagnosis of idiopathic HFS was clinically made.The patients were largely randomized into two groups according to the order of referral.One was regular group including 33 cases whose injection sites were routinely at the frontal,orbicularis oculi,zygomaticus and buccinator muscles while another was PAM group including 30 cases,in which 4 units of BTX-A was additionally injected to the PAM.Before and after injection,the test of blink reflex was performed and lateral spread of blink reflex to orbicularis oris(OO)and PAM,I.e.Abnormal muscle response(AMR),were recorded,and the peak-peak amplitude of AMR was measured.The patients were followed up clinically and electrophysiologically at least 4 weeks((29.5±2.5)days) later.Results(1)The patients reported that their auricular symptoms subsided after injection in both groups.The remission rate was 45.5%(15/33)in the regular group and 76.7%(23/30)in the PAM group,respectively,with a higher rate in the PAM group(x2=6.40,P=0.011).(2)In both groups the AMR amplitude decreased significantly after injection.In the regular group,the OO amplitudes (μV) before and after injection were 304.0±30.3 and 129.3±9.6(t =5.820,P =0.000),and PAM amplitudes,298.0±33.3 and 184.7±20.2(t=2.818,P=0.014),respectively.In the PAM group,OO amplitudes were 405.3±66.7 and 116.0±10.0(t=4.214,P=0.001),PAM amplitudes,390.0±53.6 and 72.0±9.7(t=6.011,P=0.000),respectively.(3)The decrease of PAM amplitudes in the PAM group was more significant compared with those in the regular group (t=4.237,P=0.001).Conclusions In HFS patients with auricular symptoms,the electrophysiological studies are helpful for the guidance of treatment;and the auricular symptoms could be better improved after BTX-A injection into PAM in addition to those regular injection sites.

Diagnostic significance of sensory nerve action potential amplitude in early-stage diabetic neuropathy / 中华神经科杂志

Objective To investigate the diagnostic significance of sensory nerve action protential (SNAP) on diabetic neuropathy (DN), through measuring amplitude and amplitude ratio. Methods There were 91 patients with type 2 diabetes involing 51 cases without neurologic symptom/sign as subgroup Ⅰ, 30 cases with mild neuropathy as subgroup Ⅱ and 10 cases with severe neuropathy as subgroup Ⅲ, according to Toronto clinical scoring system (TCSS). Thirty-nine healthy volunteers with age- and gender-matched were served as controls. SNAP were antidromically recorded using surface electrodes. The observed parameters were as follows: conduction velocity and amplitude of median, radial and sural nerve, shorten for Vine, Vra and Vsu and Ame, Ara and Asu, respectively; sural/radial nerve amplitude ratio (SRAR) and median/ radial nerve amplitude ratio (MRAR). Results (1) As compared with the controls (P<0.05),conduction velocity (m/s, Vine : 46. 2 ±7.3, Vra: 45.8±6. 9, Vsu: 30. 3±9. 5) and amplitude (μV, Am: 15.4±10.5, Ar: 16.6±9.8, As: 5.9±6. 3)decreased significantly in subgroup Ⅲ; Vsu (46.2± 4. 7) significantly slowed in subgroup Ⅱ (P = 0. 002) ; both Ame (34. 5 ± 10. 2, 33. 0 ± 14. 6) and Asu (13.8± 5.6, 10.7 ± 5.5) decreased significantly in both subgroup Ⅰ and Ⅱ respectively, with Asu decreasing more significantly in subgroup Ⅱ (Z=- 3.22, P = 0. 001) ; SRAR (0. 432±: 0. 112) was significantly smaller only in subgroup Ⅰ , both SRAR (0. 330 ±0. 102) and MRAR (1. 008 ± 0. 225) were significantly smaller in subgroup Ⅱ. SRAR decreased more significantly in subgroup Ⅱ (t = - 3. 86, P = 0. 003). (2) The abnormal rate of Ame was the highest in subgroup Ⅰ (26. 0%), and Asu in subgroup Ⅱ (41.4%) ; while that of combination of Asu and SRAR (68.9%) was significantly higher than that of Asu alone (x2 = 9. 212, P = 0. 003). (3) TCSS scores were negatively related to Van (r = - 0. 583), Ame (r=-0. 406), Asu (r=-0.620) and SRAR (r=-0.527, all P<0.05), and there was no significant correlation of TCSS scores with MRAR in subgroup Ⅱ; both SRAR (r = -0.435) and MRAR (r = - 0. 319) were negatively related to the diabetic duration (both P < 0. 05). Conclusions In mild or early DN, SNAP amplitude is more sensitive than conduction velocity, combination of SRAR and Vsu may be serve as a useful indication for early diagnosis. In the DN patient, diabetic duration has more influence on the measurement of sensory NCS, and SRAR is related to the severity of neuropathy.

Significance of magnetic resonance diffusion tensor imaging for evaluation of upper motor neuron disease in patients with amyotrophic lateral sclerosis / 中国组织工程研究

BACKGROUND: Magnetic resonance diffusion tensor imaging (MRDTI) may non-wounded detect damage of fiber in white matter and becomes an effectively way to evaluate upper motor neuron(UMN) impairments.OBJECTIVE: To investigate the clinical significance of MRDTI on amyotrophic lateral selerosis(ALS).DESIGN: Case contrast observation.SETTING: Department of Neurology, Renmin Hospital of Wuhan University.PARTICIPANTS: Twenty ALS patients were selected from Department of Neurology, Renmin Hospital of Wuhan University from April to December 2005. There were 11 males and 9 females, and their ages ranged from 33 to 73 years with the mean age of (51±10) years. All subjects met the diagnostic criteria of ALS set by World Neurology League.Other 15 healthy subjects were collected as control group. There were 8 males and 7 females, and their ages ranged from 31 to 73 years with mean age of (50±11) years. All subjects provided the confirm consent.METHODS: Based on level of upper and lower motor neuron impairments, ALS patients were divided into UMN impairment group (n =16) and lower motor neuron group (n =4). Functional scores of ALS, illness developing velocity and pyramidal sign scores were performed, respectively. All subjects were scanned with DTI at axial view. Regions of interest [subcortical white matter of precentral gyrul and postcentral gyrul (Pre-CG/Post-CG), centrum semiovale and frontal white matter (CS/FWM), peripheral lateral cerebral ventricle, posterior limb of internal capsule (PIC), cerebral peduncle (CP), genu corpus callosum and splenium corpus callosum (GCC/SCC) and dorsal thalamus (DT)] were selected to measure fractional anisotropy (FA) and apparent diffusion coefficient(ADC).MAIN OUTCOME MEASURES: Correlations among FA, ADC, functional score of ALS, illness developing velocity and pyramidal sign scores.RESULTS: Twenty patients and 15 subjects in the control group were involved in the final analysis. ① FA was reduced and ADC increased in the posterior limb of the internal capsule in patients with UMN signs compared to healthy volunteers (t =3.452, 2.670; P ＜ 0.01, 0.05). Nonparametric tests revealed that there was a trend toward reduced FA in the posterior limb of the internal capsule in B group compared to controls (U =11, P =0.057). ② In UMN impairment group, FA in the posterior limb of the internal capsule was positively correlated with the ALS rating scale (r =0.577, P ＜0.05) and negatively correlated with pyramidalsign scores (r = -0.789, P ＜ 0.01 ),CONCLUSION : The impairment of pyramidal tracts can be noninvasively evaluated by diffusion tensor MR in vivo, thus providing useful information in diagnosing and further understanding MND.

Cyclical Variations of Blood Concentration of Phenytoin and Its Pharmacokinetics in Menstrual Epilepsy / 中国药房

OBJECTIVE:To explore the changes of serum phenytoin levels and its pharmacokinetics in menstrual epilepsy.METHODS:9cases of menstrual epilepsy patients who were treated with phenytoin were collected,whose blood concentra?tions of phenytoin in menstrual period and ovulation period were respectively determined by HPLC,pharmacokinetics study was performed in three of them.RESULTS:The mean serum phenytoin levels in menstrual period and ovulation period were(9.25?2.71)?g/ml and(13.33?3.22)?g/ml,respectively(P

Changes of motoneuronal function on remote site after local injection of botulinum toxin type-A / 中国组织工程研究

BACKGROUND: After local injection of Botulinum toxin type-A (BoTX-A), not only the function of the neuromuscular conjunction was affected, but also the changes occurred remote from the injected site. F-waves result from the back fire of the motoneuron activation, which may indirectly reflect the functional state of the motoneurons.OBJECTIVE: To evaluate the remote effect of local BoTX-A injection by F-wave test.DESIGN: Self-control study based on patients with movement disorders.SETTING: Neruologic clinic in a university hospital.PARTICIPANTS: Twenty-six patients with movement disorders not received previous local BoTX-A were selected from Neurological Clinic in Renmin Hospital of Wuhan University between September 2002 and July 2003, including 19 cases with hemificiospasm, 5 Meige syndrome and 2 torticollis spasmodicus.INTERVENTIONS: F- and M-waves of ulnar and tibial nerves were recorded before 1, 12 - 24 weeks after local injection of BoTX-A in 26 patients.MAIN OUTCOME MEASURES: The following parameters were analyzed:latency(ML) and amplitude (Mamp) of M-wave, minimal (Fmin) and average latency (Fave), amplitude of negative peak(Famp), duration (Fdur), persistence (Fpcr) and chronodispersion (Fchr) of F-wave.RESULTS: No definite F-response of ulnar nerve stimulation was obtained 1 week after injection in 3 HFS patients (5 nerves) . Fave prolonged significantly on ulnar and tibal nerve and Fdur increased significantly on ulnar nerve 1 week after injection, but there was no significant difference 12 - 24 weeks later, compared with before injection. No significant correlation of the altered F-wave parameters was found with the dosage of BoTX-A.CONCLUSION: Fdur and Fave could sensitively assess the remote effect,which correlates with distance away from the injected muscle, rather than the dosage of BoTX-A.

F-wave for evaluating earlier diabetic peripheral neuropathy / 中国组织工程研究

BACKGROUND: The minimal latency and conduction velocity of F-wave have been widely used for the detection of varied neurological disorders,whereas the significance and the diagnostic value for the other parameters of F wave are seldom reported. How sensitive are these parameters in the earlier evaluation of diabetic peripheral neuropathy (DPN) ?OBJECTIVE: To investigate the evaluating value of F-wave parameters for the earlier DPN, providing references for earlier clinical rehabilitative intervention.DESIGN: Case-control study with type 2 diabetic patients and health people as subjects.SETTING: The wards and outpatients in the Departments of Neurology and Endocrinology, Renmin Hospital of Wuhan University.PARTICIPANTS: Between January 1999 and December 2000, there were totally 106 patients with type 2 diabetic mellitus(DM) at the wards and outpatients in the department of neurology and endocrinology in Renmin Hospital of Wuhan University, including 64 males and 42 females, with the average age of (55 ± 13) years and the average DM course of (10.2 ± 4. 8)years. Meanwhile, 75 healthy volunteers were enrolled in the control group,including 45 males and 30 females, with the mean age of(54 ± 12) years.Two groups were matched in age and leg length( P ＞ 0. 05).INTERVENTIONS: Using Nicolet Viking-Ⅳ, F wave and M-wave parameters of tibial nerve stimulation were analyzed.MAIN OUTCOME MEASURES: The minimum latency (Fmin), duration (Fdur), amplitude(Famp) and area(Farca) of F wave; and the amplitude (Mamp)and aera(Marea) of M-wave.neuropathy( n = 30), there were 8 cases(the abnormal rate being 27% ) with increased Fdur, 4(13% ) with prolonged Fmin and 2(7% ) with increased F/Mamp and F/Marea increased significantly in the patients with DPN( n = 76).mality rate of Fdur was significantly higher (96% vs 21%, P ＜0.01), the abnormality rate of Fmin was significantly lower(51% vs 76%, P ＜ 0.05 ) and there were no significant difference of other parameters( P ＞ 0.05) in the patients with mild DPN subgroup ( n = 47).diagnostic parameter for earlier DPN, and therefore detect the sub-clinical DPN, and the proximal may be earlier involved than the distal.