Atypical Takotsubo cardiomyopathy associated with neuromyelitis optica spectrum disorders: a case report / 中华神经科杂志

Recently, neuromyelitis optica spectrum disorders (NMOSD) appear to be a multi-organ disorder, however, the involvement of myocardium in NMOSD is extremely rare. In the present article, we present a young girl who manifested bilateral optic neuritis, area postrema syndrome, brainstem syndrome and transverse myelitis, as well as tachycardia, abnormal electrocardiograph, moderate elevation of myocardial biomarker and regional wall movement abnormalities, which confirmed the diagnosis of Takotsubo cardiomyopathy associated with NMOSD. The neurological deficits along with myocardial injury were recovered soon after the administration of intravenous methylprednisolone and intravenous immunogloblin. This is a rare case that should be paid attention and by which can not only broaden the symptom spectrum of NMOSD, but can also provide novel visions for further investigating the mechanism of organs damage.

The clinical, imaging, intestinal pathological characteristics of gluten ataxia: a case report in Chinese mainland / 中华神经科杂志

Objective To investigate the clinical,imaging,intestinal pathological characteristics and prognosis of gluten ataxia (GA).Methods The clinical data,treatment and prognosis in a patient with GA that was confirmed by pathology and hospitalized in the Department of Neurology,China-Japan Friendship Hospital in July 2018,were analyzed retrospectively.The related literature was reviewed and the clinical feature was summarized.Results The patient is a 41-year old man.He suffered from progressive cerebellar ataxia,and the brain magnetic resonance imaging exhibited diffused cerebellar atrophy.Serum human leukocyte antigen (HLA) tests showed that the patient carried HLA-DQ2 genotype.IgA type anti-gliadin antibody was positive (39.39 RU/ml).Duodenoscopy biopsy revealed mild villus atrophy and lymphocytic infiltration,indicating celiac disease.The diagnosis of GA was established then and the patient was administered gluten-free diet combined with intravenous immunoglobulin,which markedly improved the cerebellar symptoms and signs of cerebellar speech,walk capability and daily living activities.He could do long distance driving independently two months later.Conclusions GA is one of immune-mediated reversible acquired cerebellar ataxia caused by gluten sensitivity.The genotype,serologic features,and clinical phenotype of GA in Chinese mainland population might be similar with those in European and American countries.

Clinical, myopathological and genetic mutations features of limb girdle muscular dystrophy 2I / 中华神经科杂志

Objective To summary the pathological and genetic features in nine Chinese limb girdle muscular dystrophy 2I (LGMD2I) patients.Methods Nine LGMD2I patients were recruited from Peking University First Hospital between 2011 and 2016, who came from nine unrelated and non-consanguineous families.The mean age of onset was (8.2±5.2) years (2 to 19 years), and the mean disease duration was (10.4±6.1) years (1 to 24 years).There were six males and three females, present with weakness in limb girdle muscles, four of whom accompanied with calf hypertrophy and three with scapular winging.Serum creatine kinase was 964-23 131 U/L (normal 25-190 U/L).Five of them who conducted electromyogram showed myogenic pattern.Muscle biopsy and next generation sequencing were performed in these patients, then sanger sequencing was performed to determine whether the variants co-segregated with the phenotype in these families.Results Muscle biopsy revealed myopathy features in six patients, dystrophic change in one, and only mild changes in two.Major histocompatibility complex-Ⅰ was positive in six cases, and rimmed vacuoles were found in two.There were seven mutations in fukutin-related protein (FKRP) gene.A reported mutation of c.545A>G (p.Y182C) appeared in eight cases, including three homozygotes and five compound heterozygotes.The mutation of c.1067T>C (p.Ile356Thr) was reported too.And c.1263C>A (p.Tyr421X), c.534G>T(p.Thr178Cys), c.1027G>C (p.Glu343Gln), c.1027G>T(p.Glu343X), c.1448A>G (p.Tyr483Cys) were found to be novel mutations.Conclusions LGMD2I showed large variation in myopathology.The missense mutation A545G(Y182C) is a hot spot of FKRP gene in our series.

Effects of Isopimaric Acid on cognitive handicap and synaptic plasticity in APP/PS1 mice / 中华行为医学与脑科学杂志

Objective To investigate the protective effects of isopimaric acid ( ISO), the BKCa channel activator, on cognitive function and synaptic plasticity in APP/PS1 mice. Methods Alzet osmotic pump was loaded with ISO or DMSO only and assembled with ALZET Brain Infusion Kit III. The cannula was implanted into the lateral ventricle of 4-month-old male APP/PS1 mice or matched wild type ( WT) mice. Two weeks later, open field test and Morris water maze were conducted. Paired-pulse facilitation ( PPF) and TBS-induced long-term potentiation ( LTP ) were recorded in CA1 region of hippocampus. Results The open field test showed that there was no significant difference among the four groups in spontaneous activities and vertical plane movement distance within 30 minutes. Floor plane movement distance was significantly greater in APP/PS1+DMSO group than that in WT+DMSO group(P<0.05) . Compared with the WT+DMSO group, APP/PS1+DMSO group had significantly longer escape latency from the third to fifth day and lower percentage of time spent in the target quadrant ((43.27±3.24)% vs (34.19±2.56)%) and the number of crossing through the platform ((4.25±0.66)times vs (1.93±0.33)times)(P<0.05). Compared with the APP/PS1+DMSO group, the APP/PS1+ISO group had significantly shorter escape latency from the fourth to fifth day and higher percentage of time spent in the target quadrant ((46.16±3.51)%) and the number of crossing through the platform ((3.41±0.34) times) (P<0.05). PPF in APP/PS1+DMSO group significantly reduced compared with that in WT+DMSO group at 30-50ms interstimulus interval(P<0.05). PPF in APP/PS1+ISO group((224.50±13.79)%) was significantly augment compared with APP/PS1+DMSO ((174.99 ±6.68)%) group at 40 ms interstimulus interval (P<0.05). The LTP at 60 min post-TBS was significantly smaller in the APP/PS1+DMSO group ((135.19±1.32)%) than that in the WT+DMSO group ((172.17± 4.15)%)(P<0.001). The LTP of the APP/PS1+ISO group((160.48±1.19)%) became significantly in-creased compared with that in the APP/PS1+DMSO group(P<0.001).Conclusion BKCa channel activator ISO improve the learning and memory function of APP/PS1 mice by promoting PPF and increasing LTP to recover synaptic plasticity in the hippocampus.

Changes in regional cerebral blood flow in patients with amnestic mild cognitive impairment and Alzheimer's disease / 中华老年医学杂志

Objective To investigate the changes in regional cerebral blood flow and its relationship with atrophy of the entorhinal cortex in patients with amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD).Methods Twenty eight patients including ten cases with aMCI,nine case with mild AD and nine cases with moderate to severe AD were enrolled.The cognitive function was evaluated by revised version of Hasegawa's Dementia Scale (HDS-R) and Alzheimer's Disease Assessment Scale-cognitive part (ADAS-cog).Regional cerebral blood flow was evaluated by 99mTc-ECD SPECT and easy Z score imaging system (eZIS).Z scores of voxel-based specific regional analysis system for Alzheimer's disease (VSRAD) were used to assess the degree of atrophy of the entorhinal cortex.Results The Z-score in eZIS was lower in mild to severe AD group than in aMCI group [(1.57±0.46),(1.50±0.54) vs.(1.00±0.50),F=4.58,P=0.022],which showed that the regional cerebral blood flow of cingulate was lower in AD group than in aMCI group.The Z-score in eZIS in bilateral frontal lobes and left hippocampus were higher in moderate to severe AD group than those in aMCI group than in aMCI and mild AD group respectively [(1.43± 0.79) vs.(0.67±0.50),(0.88±0.64); (1.43±0.79) vs.(0.67±0.50),(0.75±0.46); (1.86± 0.50) vs.(1.33±0.50),(1.75±0.46),F=2.90,3.81 and 3.06,respectively,P=0.077,0.039 and 0.068],which showed that the regional cerebral blood flow of bilateral frontal lobes and left hippocampus were lower in moderate to severe AD group than in aMCI group.The score of HDS-R had a negative correlation (r =-0.568,-0.481,P=0.004,0.017) and the score of ADAS-cog had a positive correlation (r=0.462,0.459; P =0.030,0.032) with regional cerebral blood flow in hippocampus.Conclusions The regional cerebral blood flow of cingulate gyrus is decreased in early stage of AD,and involves in frontal lobe and hippocampus along with the deterioration of diseases.The changes of cognitive function are correlated with cerebral blood flow in hippocampus.The Z-score in eZIS can effectively evaluate the changes of regional cerebral blood flow in aMCI and AD patients.

An analysis of clinical and imaging characteristics of atopic myelitis / 中华内科杂志

Objective To study the clinical and imaging characteristics of Chinese atopic myelitis (AM) patients.Methods Three diagnosed AM patients were retrospectively analyzed for the clinical data,serum IgE level,antigen specific IgE,cerebrospinal fluid,spinal MRI and therapeutic efficacy profiles.Results All the three patients were male and presented as subacute AM with the onset at 25,47 and 49 years old respectively.Two patients were allergic to pollen and other drugs,while another patient suffered from allergic rhinitis.Elevated serum total IgE and mite antigen specific IgE were found in all cases.Paraesthesia in limb extremities and positive Lhermitte sign were the main clinical features,while no optic,motor,urinary and defecation disturbance were found.Oligoclonal banding of cerebrospinal fluid and serum aquaporin 4 (AQP4) antibody were both negative in all cases.Spinal MRI showed lesions were hypointense on T1 and hyperintense on T2 at the posterior column of T2-3 segment with abnormal enhancement in case 1,hypointense on T1 and hyperintense on T2 at C2/3 segment with mild swelling in case 2 and hypointense on T1 and hyperintense on T2 at C3-5 segments with swelling and abnormal enhancement in case 3.Vitamin B were used in one patient,while the other two patients improved after the treatment with high-dose corticosteroids.Conclusions Subacute myelitis predominantly presents as paraesthesia in limb extremities with elevated serum total IgE and mite antigen specific IgE,while severe motor disorders are rare.Swelling and abnormal enhancement lesions at the posterior column of cervical cord are the common imaging features.Treatment with corticosteroids is recommended to be sustained for 3-6 months.

Cognitive impairment and neural electrophysiological studies in early stage of transgenic Alzheimer's disease mice / 中华行为医学与脑科学杂志

Objective To investigate the early onset of learning and memory function of 4-month-old APP/PS1/Tau Alzheimer' s disease (3×Tg-AD) model mice and explore the pathogenesis of AD in early stage through evaluating neuron excitability and BKCa channel activity in cingulate cortex pyramidal cells.Methods Ten 4-month-old male 3×Tg-AD mice and matched ten wild type (WT) mice.Behavior was tested with the novel object recognition task to observe the ability of learning and memory.Whole-cell patch-clamp recordings were performed to assess the excitability of cingulate cortex pyramidal cells in terms of resting membrane potential and frequencies of spikes evoked by current injection.A train of five pulses of depolarizing currents were injected at 100 Hz to assess the spike width,which was used as an index for BKCa channel activity.Results Compared with the WT group (0.72±0.03),the novel object recognition index significantly decreased in 3 × Tg-AD group (0.55 ± 0.04) (P =0.004).Compared to the WT group((-66.03±0.43) mV),the resting membrane potential in cingulate cortex neurons of 3×Tg-AD group((-62.31±0.54)mV) was significantly depolarized(P=0.000).In contrast to WT group,the action potential firing frequencies evoked by depolarizing current injections were higher in neurons from 3×Tg-AD group(P=0.000),demonstrating that excitability of cingulate cortex neurons was elevated by intracellular Aβ.Spikes were broader in the 3×Tg-AD group than those in the WT group(P＜0.01).Suppression of BKCa channels in cingulate cortex neurons from the 3×Tg-AD group was confirmed on the basis of the spike half-width,since BKCa channels affect the descending phase of spikes.Conclusion Compared to WT mice,4-month-old 3×Tg-AD mice are impaired in learning and memory.The suppression of BKCa channels by intracellular Aβ leads to increase of excitability in cingulate cortex pyramidal cells.

Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).</p><p><b>METHODS</b>Clinical data of the patient was analyzed. Exons of the TCAP gene were amplified and sequenced.</p><p><b>RESULTS</b>The patient has presented clinically as LGMD and pathologically as vacuolar myopathy. Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC, c.166insG).</p><p><b>CONCLUSION</b>LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.</p>

Endovascular stenting for symptomatic vertebral artery ostial stenosis:the clinical effect and follow-up study / 中国脑血管病杂志

Objective Toinvestigatetheoperativeeffectandsafetyofendovascularstentingfor thetreatmentofsymptomaticvertebralarteryostialstenosis.Methods Fortypatientswithsymptomatic vertebral artery ostial stenosis and stenosis rate ≥70% were admitted to the Department of Neurology, China-Japan Friendship Hospital from November 2010 to January 2013 were enrolled retrospectively. All patients received endovascular stenting therapy,15 of them were implanted bare metal stents,and 25 were implanted drug eluting stents. The technical successful rate of operation,perioperation complications,and symptom remission rate of the patients were analyzed. At the same time,stroke and death incident as well as the related ischemic symptoms of the stent vascular feeding area in the follow-up period (13 to 36 months)wereobservedandtherestenosisratewasdocumented.Results Atotalof42stentswereimplanted in 40 patients,and the technical success rate was 100. 0%. The preoperative stenosis rate of vertebral artery ostial stenosis was 75% to 99%(mean 85 ± 7%);the postoperative stenosis rate was 0% to 20%(mean 6 ± 4%). There was no perioperative complication. The clinical symptoms of 19 patients disappeared completely,16 were improved significantly within the follow-up period,and the symptom remission rate was 87. 5%. No stent vascular feeding area related stroke and death occurred. Four patients had transient ischemic attack in posterior circulation,13 had restenosis after procedure (10 of them with bare mental stents and 3 with drug eluting stents). There was significant difference in restenosis rate between the bare mental stents andthedrugelutingstents(10/15vs3/25,P=0.001).Conclusion Endovascularstentingforthe treatment of the severe symptomatic vertebral artery ostial stenosis is a safe and efficient method. Although its restenosis rate is high,but it can improve the symptom of posterior circulation ischemia effectively.

Lateralizing language area and assessing hemispheric memory function by intracarotid injecting propofol / 中华神经科杂志

Objective In the context of worldwide shortage of amytal,explore the intracarotidpropofol test for lateralizing language area and assessing hemispheric memory function.Methods Fourteen patients with refractory partial epilepsy who were candidates for surgical intervention were included in the study.With guide under a digital subtraction angiography,propofol was injected in bilateral intracarotidsequentially.Muscle power deceasing to level 0 at the contralateral limb and eyes gazing to contralateral side were used as the mark of hemispheric anesthesia completely.The immediate language alterations were recorded.To evaluate the bilateral language and memory functions,the visual and auditory memory tasks were performed sequentially once patient could concentrate his attention ; and after limb muscle power recovering to normal level,patients were required to perform a free recall test.Any abnormal responses were recorded.Results Language dominant hemisphere was determined in 14 patients.Nine patients were confirmed as left language dominance,2 patients were right language dominance.The remained 3 patients were considered as bilateral language dominance.Meanwhile,the hemispheric memory function was able be evaluated in 13 patients.More than 67％ memory function was sustained in hemisphere contralateral to mesial temporal lesions.Transient responses including eye pain,facial muscle spasms,laughers and involuntary movements were observed.Conclusion Hemispheric language and memory functions can be assessed with direct intracarotidpropofol injection,and propofol could be an alternative drug to amobarbital used in the Wada test.

Utility of short tau inversion recovery sequence in the diagnosis of hippocampal sclerosis / 中华神经科杂志

Objective To evaluate the utility of short tau inversion recovery (STIR) sequence in the diagnosis of hippocampal sclerosis ( HS).Methods Twenty-one patients with medial temporal lobe epilepsy without neoplasm lesions or injuries by conventional MRI sequence including T1WI,T2WI and FLAIR were included in this study.STIR imaging in axial,coronal and sagittal sequences was performed on these patients. Diagnosis of HS was based on the findings of hippocampal atrophy,alteration signal,disturbed internal structure and enlargement of the inferior horn. The findings shown on conventional MRI were compared with those on STIR sequence. Furthermore,the correlation of radiologic and histological findings was investigated in 6 patients operated for refractory seizures. Results On conventional MRI sequence,14 patients (66.7％) were confirmed with unilateral HS and 4 patients were suspected with unilateral HS. In contrast,all these 18 patients (85.7％) were confirmed with unilateral HS by STIR.Particularly,STIR sequence delineated the internal structure of hippocampus more clearly than conventional MRI sequences did. C shaped contour in subiculum-CA1-CA2 was revealed in normal hippocampus on STIR sequence and disappeared in HS,correlated to the pathology finding of loss of neuron in CA1 in resected tissues in 6 operated patients.The patients with HS also showed areas of hypodensity in CA4 on STIR,in accordance with pathologic findings of gliosis in this area in the 6 operated patients.Conclusion STIR sequence could depict the internal anatomical structure of hippocampus with high resolution superior to conventional MRI sequences,and can be of great value in the diagnosis of HS.

Mutation of mitochondrial transfer RNA for leucine 1 causing variable mitochondrial diseases / 中华神经科杂志

Objective Mitochondrial transfer RNA for leucine 1(MTTL1)is one of the most important causative genes of oxidative phosphorylation disorders.To understand the clinical,pathological and molecular genetics features of the disordel's caused by MTTL1 mutation.18 patients with a causative mutation in MTTL1 were analyzed.Methods The clinical features,the findings of tlleir biochemistry tests.the neuroimagings,the pathology of biopsied muscles and hereditary characteristics were retrospectively summarized.Results The mutations mt3243A>G and mt3271A>T within MTTL1 gene led to variant syndrome,encephalomyopathies with lactic acidosis and stroke like episodes,diabetes mellitus,progressive external ophthalmoplegia,leish syndrome and complex mitochondrial syndrome were reported.Usually,most patients were sporadic but maternal transmission was the common inherited model.Conclusion The disorders caused by the MTTL1 mutation are hishly phenotypic vailable.There is no association between phenotype and heteroplasmy in muscle.

Ultrasound thrombolysis in patients with ischemic stroke / 国际脑血管病杂志

Intravenous thrombolysis is the only treatment that has the evidence of evidence-based medicine in acute ischemic stroke. However, the narrow time window has limited the treatment opportunities of many patients. Transcranial ultrasound thrombolysis is a very promising thrombolysis-assisted method, and transcranial ultrasound plus microbubble-assisted thrombolysis is the research hotspot in recent years. At present, more suitable ultrasonic instruments for thrombolysis and a number of ways of ultrasound-assisted thrombolysis are being developed.

Neurophysiological assessment of full night sleep in patients with Alzheimer's disease / 中华神经科杂志

Objective To determine whether sleep structures,the waveform components of NREM and rapid eye movement (REM) sleep, and the relationship between sleep variables and mental status are altered. Methods Totally 16 Alzheimer's disease(AD) patients and 16 age-matched controls were studied for two consecutive nights.All cases were video-monitored during the recordings of electroencephalography,electro-oculography,electrocardiography,electromyography in chin,and nasal airflow. Results (1) Compared with normal controls,duration of total sleep ( F =6.30, P =0.017 9),stage Ⅱ sleep ( F =16.03, P =0.000 4),and REM sleep ( F =9.84, P =0.002 1) were remarkably decreased,but waveform components of slow-wave (stage Ⅲ-IV) sleep ( F =11.50, P =0.004) were increased in AD patients.(2) Sleep spindle duration and density,and its relative and absolute power,and K complex density ( F =13.64～79.11, P

nsory axonal neuropathy: a clinical and electrophysiological study / 中华神经科杂志

jective To study the clinical and electrophysiological characteristics of sensory axonal neuropathy (SAN). Methods Clinical data in 24 patients with SAN and 88 age-matched normal controls were examined. Sensory and motor nerve conduction were evaluated with supramaximal stimulation and surface electrodes in 180 nerves at different nerve segments of normal subjects, and compared with that of 90 nerves with sensory axonal neuropathy. Results Sensory symptoms of numbness and sensory ataxia were seen in 91. 6% of the patients, 70. 8% of them were mainly involved in the lower extremities. No weakness and fasciculation were found in our patients. Nerve conduction studies showed a normal MCV and CMAP amplitude, but the decreased amplitude of SNAP and slowed SCV in our patients had significant differences as compared with that of the normal subjects (P

Clinical and electrophysiological features of multifocal motor neuropathy / 临床神经病学杂志

Objective To study clinical and electrophysiological features of multifocal motor neuropathy (MMN). Methods The clinical features and data of electrophysiological examination from 16 patients with MMN were analyzed retrospectively.Results In the present study, the onset age was 14 to 47 years with the mean age of (28.2?2.4) years. All the 16 patients presented with unsymmetrical weakness of extremities (Ⅱ～Ⅳ grade of muscle strength) and no hypoesthesia. More serious weakness was found in the upper limbs and in the right extremities. 4 cases were accompanied with mild amyotrophy. Electromyography showed segment conduct block (CB) and slow down of conduct velocity of motor nerves in all 16 patients. Slow conduct velocity of sensory nerve was found only in one case.Conclusions MMN is an unsymmetrical peripheral neuropathy, which affects mainly on motor nerve. Nerve electrophysiology plays an important role in diagnosis of MMN and CB is the characteristic manifestation of nerve electrophysiological change in MMN.