A case of progressive supranuclear palsy in a 66-year-old woman is presented.The patient complained of“progressive stiffness of both lower limbs for five years,accompanied by choking and coughing for more than 1 year...A case of progressive supranuclear palsy in a 66-year-old woman is presented.The patient complained of“progressive stiffness of both lower limbs for five years,accompanied by choking and coughing for more than 1 year,”and was diagnosed with paralysis in traditional Chinese medicine(TCM),which was characterized by a deficiency of liver and kidney,and phlegm and blood stasis blocking the collaterals.Western medicine diagnosed it as progressive supranuclear palsy.The patient was diagnosed with“Parkinson’s disease”several times in the past and was given“polybasic hydrazide”and“amantadine hydrochloride tablets,”etc.The patient did not have significant symptomatic relief,so she sought further treatment with a combination of traditional Chinese and Western medicine.Based on the concept of deficiency and excess,this disease is categorized as a paralytic disease in Chinese medicine,and the onset of the disease is closely related to the deficiency of the body after a long period of illness,with wind,phlegm,blood stasis,and deficiency as the main pathogenetic mechanism.The treatment is based on the combination of disease and evidence,with traditional Chinese medicine and acupuncture as the main treatments,supplemented by intermediate-frequency pulsed electrical stimulation,transcranial repetitive magnetic stimulation,medicated canisters,wax therapy,traditional Chinese medicine guasha,and acupoint injections.Western medicine is based on symptomatic treatment,and the patient’s symptoms were relieved significantly after the combination of Chinese and Western medicine.展开更多
OBJECTIVE： To quantitatively evaluate the association between tau genetic polymorphism （H1 and H2） and susceptibility to sporadic progressive supranuclear palsy （PSP）. DATA SOURCES： Relevant Medical Subject Head...OBJECTIVE： To quantitatively evaluate the association between tau genetic polymorphism （H1 and H2） and susceptibility to sporadic progressive supranuclear palsy （PSP）. DATA SOURCES： Relevant Medical Subject Heading terms and text words were used to identify articles from MEDLINE （1966/2010-07）, EMBASE （1984/2010-07）, and Chinese National Knowledge Infrastructure （1979/2010）, as well as references of the retrieved articles. STUDY SELECTION： The selected articles met the following criteria： sporadic PSP case group and healthy control group, as well as genotype frequency （H1/H1 and H1/H2 ＋ H2/H2） in cases and controls. Genotype distribution in the control groups was tested using the Hardy-Weinberg Equilibrium （HWE）. Articles irrelevant to HWE were excluded, and a forest plot was performed to combine all selected articles with Review Manager （Version 5.0）. MAIN OUTCOME MEASURES： The summary odds ratios arid corresponding 95% confidence intervals （95%CI） for tau polymorphism （H1/H1 and H1/H2 ＋ H2/H2） between sporadic PSP case and healthy control groups were estimated using the fixed effects model to assess whether tau genetic polymorphism is associated with sporadic PSP susceptibility. RESULTS： According to inclusion and exclusion criteria, a total of 16 articles, which included 1 337 sporadic PSP cases and 2 073 controls, were used in the study. Two articles were excluded because of deviation from HWE in the control groups. The combined result, based on all studies, showed a significant difference in genotype distribution between cases and controls： H1H1 vs. H1H2 ＋ H2H2 （odds ratio （OR） = 4.98, 95%C1： 3.97-6.23, P 〈 0.01）. Stratifying for geographic distribution of PSP, sporadic PSP cases exhibited a significantly higher frequency of H1H1 genotypes than controls in the United States （OR = 4.07, 95%C/： 3.16-5.25, P 〈 0.01） and Europe （OR = 8.60, 95%C1： 5.05-14.64, P〈 0.01）. CONCLUSION： Tau genetic polymorphism is associated with sporadic PSP susceptibility, and geographic distribution might play a role in tau genetic polymorphism and sporadic PSP susceptibility.展开更多
OBJECTIVE： To thoroughly investigate clinical characteristics of progressive supranuclear palsy （PSP） in a Chinese population. METHODS： Computer-based online searches through China National Knowledge Infrastructur...OBJECTIVE： To thoroughly investigate clinical characteristics of progressive supranuclear palsy （PSP） in a Chinese population. METHODS： Computer-based online searches through China National Knowledge Infrastructure and Weipu Periodical Database were performed to collect case reports of PSP published between 1980 and 2009. Clinical characteristics were analyzed. RESULTS： A total of 58 studies comprising 105 patients （76 males and 29 females） were included. All cases were sporadic and free of family history. The mean age at onset was 60.6 _＋ 9.1 years, and the mean course from onset of symptoms to diagnosis was 3.4 ＋ 2.4 years. The male-to-female ratio was approximately 3： 1. Onset was characterized by akinetic-dgid features and accounted for 34.3% of all cases, followed by early postural instability （25.5%）, pseudobulbar palsy （9.8%）, cognitive impairment （9.8%）, and vertical supranuclear ophthalmoplegia （7.8%）. With disease progression, vertical supranuclear ophthalmoplegia was reported in 95.1% of cases, followed by akinetic-rigid features （83.3%）, pseudobulbar palsy （82.4%）, axial dystonia （75.5%）, cognitive impairment （72.5%）, and early postural instability （69.6%）. A total of 70.5% of patients exhibited abnormal electroencephalograms, and 21.4% exhibited mild abnormalities in cerebrospinal fluid. Brain CT scanning results of 37 patients showed 37.8% with midbrain and concurrent cerebral hemisphere atrophy, and 5.4% and 24.3% with midbrain and cerebral hemisphere atrophy, respectively. Brain MRI scanning results of 55 patients revealed a total of 16.4% patients with midbrain atrophy, 23.6% with midbrain and concurrent cerebral hemisphere atrophy, 32.7% with cerebral hemisphere atrophy, and 11% with brainstem atrophy. The percentage of midbrain atrophy revealed by MRI was greater than by CT. All 11 patients subjected to Mini-Mental State Examination scored 〈 23. A total of 10 patients underwent brain electrophysiological examination, and 80% presented with abnormalities of cerebral-evoked potential. A total of 33.3% patients presented with neurogenic damage of anal sphincter electromyography. Nine cases were neuropathologically diagnosed, and all displayed tau-positive argyrophilic globous neurofibrillary tangles, tuft-shaped astrocytes, and coiled bodies. Gene diagnosis was not performed. A total of 40 patients were misdiagnosed, including 23 （58%） as Parkinson＇s disease and seven （18%） as Parkinsonism; 44 patients were treated by madopar, artane, or amantadine, and only seven （16%） improved in movement. No patients exhibited improved eye movement. Of 4 patients treated with madopar and dopa agonists, 2 improved in movement. In addition, movement improved in 3 patients treated with madopar and monoamine oxidase B. CONCLUSION： PSP is a sporadic disease that often strikes middle or elderly individuals. There are no significant differences in age of onset between male and female patients, although disease progression is more rapid in female patients, likely because the time from symptom onset to disease diagnosis in females is less than in male. Akinetic-rigid features and early postural instability are the most common symptoms of onset. With disease progression, the incidence of vertical supranuclear ophthalmoplegia and akinetic-rigid features increases. MRI is a common, sensitive, and noninvasive supplemental test. However, PSP is frequently misdiagnosed as Parkinson＇s disease or Parkinsonism during the early stage, and anti-Parkinson treatments remain ineffective.展开更多
differential diagnosis.PSP presents a range of ocular abnormalities that have been suggested as optional tools for its early detection,apart from the principal characteristic of postural unsteadiness.Nonetheless,such ...differential diagnosis.PSP presents a range of ocular abnormalities that have been suggested as optional tools for its early detection,apart from the principal characteristic of postural unsteadiness.Nonetheless,such symptoms may be difficult to identify,particularly during the early onset stage of the disorder.It may also be problematic to recognize these symptoms for general practitioners who lack the required experience or physicians who are not specifically educated and proficient in ophthalmology or neurology.Main body:Thus,here,a methodical evaluation was carried out to identify seven oculomotor abnormalities occurring in PSP,comprising square wave jerks,the speed and range of saccades(slow saccades and vertical supranuclear gaze palsy),‘round the houses’sign,decreased blink rate,blepharospasm,and apraxia of eyelid opening.Inspections were conducted using direct visual observation.An approach to distinguish these signs during a bedside examination was also established.When presenting in a patient with parkinsonism or dementia,the existence of such ocular abnormalities could increase the risk of PSP.For the distinction between PSP and other parkinsonian disorders,these signs hold significant value for physicians.Conclusion:The authors urge all concerned physicians to check for such abnormalities with the naked eye in patients with parkinsonism.This method has advantages,including ease of application,reduced time-consumption,and requirement of minimal resources.It will also help physicians to conduct efficient diagnoses since many patients with PSP could intially present with ocular symptoms in busy outpatient clinics.展开更多
Fahr＇s disease, or idiopathic basal ganglia calcification （IBGC）, is a rare neurological syndrome characterized by abnormal calcified deposits located mostly in bilateral basal ganglia and dentate nucleus, and also...Fahr＇s disease, or idiopathic basal ganglia calcification （IBGC）, is a rare neurological syndrome characterized by abnormal calcified deposits located mostly in bilateral basal ganglia and dentate nucleus, and also in cerebral cortex, thalamus, hippocampus, cerebellar, and subcortical white matter. Clinically, it presents various symptoms, including parkinsonism （presented in 57% of the patientsL chorea （ 19%）, tremors （8%）, dystonia （8%）, athetosis （5%）~ and orofacial dyskinesia （3%）.展开更多
目的系统评价血清神经丝轻链蛋白(neurofilament light chain protein,NfL)在神经退行性疾病及不同认知损害程度患者中的变化。方法计算机检索PubMed、Embase、Web of Science、中国知网、万方和中国生物医学文献库数据库,纳入阿尔茨海...目的系统评价血清神经丝轻链蛋白(neurofilament light chain protein,NfL)在神经退行性疾病及不同认知损害程度患者中的变化。方法计算机检索PubMed、Embase、Web of Science、中国知网、万方和中国生物医学文献库数据库,纳入阿尔茨海默病(Alzheimer's disease,AD)、帕金森病(Parkinson's disease,PD)、多系统萎缩(multiple system atrophy,MSA)、进行性核上性麻痹(progressive supranuclear palsy,PSP)患者和健康对照均有血清NfL值的队列或病例对照研究,检索时间为建库至2023年4月30日。使用纽卡斯尔-渥太华量表评价纳入研究的风险偏倚,采用RevMan 5.4软件统计分析暴露组与非暴露组间的血清NfL值差异,合并效应量采用标准均数差(standard mean difference,SMD)及95%可信区间(confidence interval,CI)表示。结果纳入43篇文献,共提取了62项对比研究。对PD、AD、MSA、PSP与各自健康对照组分组比较,四组分别纳入9项、24项、9项、8项研究。PD组[SMD=0.27,95%CI(0.17,0.36)]、AD组[SMD=0.97,95%CI(0.70,1.23)]、MSA组[SMD=1.51,95%CI(0.97,2.05)]、PSP组[SMD=1.54,95%CI(1.14,1.93)]血清NfL水平均高于各自健康对照组。对帕金森病认知正常(PD normal cognitive,PD-NC)与帕金森病痴呆(PD with dementia,PD-D)、阿尔茨海默病轻度认知减退(AD mild cognitive impairment,AD-MCI)与阿尔茨海默病痴呆(AD with dementia,AD-D)分组比较,两对比组分别纳入3项和9项研究,PD-D患者血清NfL水平高于PD-NC患者[SMD=0.92,95%CI(0.63,1.20)],AD-D患者血清NfL水平高于AD-MCI患者[SMD=0.61,95%CI(0.49,0.72)]。结论PD、AD、MSA、PSP患者血清NfL水平较健康人群升高,且认知损害程度越大,血清NfL水平越高,血清NfL可能是神经退行性疾病潜在的外周生物标志物,能够进一步反映认知水平的下降。展开更多
睁眼失用（apraxia of eyelid opening,AEO）由Glodstein等在1965年首先提出此概念,主要用于描述中枢神经系统疾病所致的非麻痹性眼睑运动障碍,主要表现为一侧或双侧眼睑的非痉挛性睁眼困难,以启动睁眼困难为主要特点。进行性核上性眼...睁眼失用（apraxia of eyelid opening,AEO）由Glodstein等在1965年首先提出此概念,主要用于描述中枢神经系统疾病所致的非麻痹性眼睑运动障碍,主要表现为一侧或双侧眼睑的非痉挛性睁眼困难,以启动睁眼困难为主要特点。进行性核上性眼肌麻痹（progressive supranuclear palsy,PSP）是一种少见的中枢神经系统变性疾病,展开更多
基金Shaanxi Province Traditional Chinese Medicine Young and Middle-Aged Science and Technology Backbone Project(2023-ZQNY-009)。
文摘A case of progressive supranuclear palsy in a 66-year-old woman is presented.The patient complained of“progressive stiffness of both lower limbs for five years,accompanied by choking and coughing for more than 1 year,”and was diagnosed with paralysis in traditional Chinese medicine(TCM),which was characterized by a deficiency of liver and kidney,and phlegm and blood stasis blocking the collaterals.Western medicine diagnosed it as progressive supranuclear palsy.The patient was diagnosed with“Parkinson’s disease”several times in the past and was given“polybasic hydrazide”and“amantadine hydrochloride tablets,”etc.The patient did not have significant symptomatic relief,so she sought further treatment with a combination of traditional Chinese and Western medicine.Based on the concept of deficiency and excess,this disease is categorized as a paralytic disease in Chinese medicine,and the onset of the disease is closely related to the deficiency of the body after a long period of illness,with wind,phlegm,blood stasis,and deficiency as the main pathogenetic mechanism.The treatment is based on the combination of disease and evidence,with traditional Chinese medicine and acupuncture as the main treatments,supplemented by intermediate-frequency pulsed electrical stimulation,transcranial repetitive magnetic stimulation,medicated canisters,wax therapy,traditional Chinese medicine guasha,and acupoint injections.Western medicine is based on symptomatic treatment,and the patient’s symptoms were relieved significantly after the combination of Chinese and Western medicine.
文摘OBJECTIVE： To quantitatively evaluate the association between tau genetic polymorphism （H1 and H2） and susceptibility to sporadic progressive supranuclear palsy （PSP）. DATA SOURCES： Relevant Medical Subject Heading terms and text words were used to identify articles from MEDLINE （1966/2010-07）, EMBASE （1984/2010-07）, and Chinese National Knowledge Infrastructure （1979/2010）, as well as references of the retrieved articles. STUDY SELECTION： The selected articles met the following criteria： sporadic PSP case group and healthy control group, as well as genotype frequency （H1/H1 and H1/H2 ＋ H2/H2） in cases and controls. Genotype distribution in the control groups was tested using the Hardy-Weinberg Equilibrium （HWE）. Articles irrelevant to HWE were excluded, and a forest plot was performed to combine all selected articles with Review Manager （Version 5.0）. MAIN OUTCOME MEASURES： The summary odds ratios arid corresponding 95% confidence intervals （95%CI） for tau polymorphism （H1/H1 and H1/H2 ＋ H2/H2） between sporadic PSP case and healthy control groups were estimated using the fixed effects model to assess whether tau genetic polymorphism is associated with sporadic PSP susceptibility. RESULTS： According to inclusion and exclusion criteria, a total of 16 articles, which included 1 337 sporadic PSP cases and 2 073 controls, were used in the study. Two articles were excluded because of deviation from HWE in the control groups. The combined result, based on all studies, showed a significant difference in genotype distribution between cases and controls： H1H1 vs. H1H2 ＋ H2H2 （odds ratio （OR） = 4.98, 95%C1： 3.97-6.23, P 〈 0.01）. Stratifying for geographic distribution of PSP, sporadic PSP cases exhibited a significantly higher frequency of H1H1 genotypes than controls in the United States （OR = 4.07, 95%C/： 3.16-5.25, P 〈 0.01） and Europe （OR = 8.60, 95%C1： 5.05-14.64, P〈 0.01）. CONCLUSION： Tau genetic polymorphism is associated with sporadic PSP susceptibility, and geographic distribution might play a role in tau genetic polymorphism and sporadic PSP susceptibility.
文摘OBJECTIVE： To thoroughly investigate clinical characteristics of progressive supranuclear palsy （PSP） in a Chinese population. METHODS： Computer-based online searches through China National Knowledge Infrastructure and Weipu Periodical Database were performed to collect case reports of PSP published between 1980 and 2009. Clinical characteristics were analyzed. RESULTS： A total of 58 studies comprising 105 patients （76 males and 29 females） were included. All cases were sporadic and free of family history. The mean age at onset was 60.6 _＋ 9.1 years, and the mean course from onset of symptoms to diagnosis was 3.4 ＋ 2.4 years. The male-to-female ratio was approximately 3： 1. Onset was characterized by akinetic-dgid features and accounted for 34.3% of all cases, followed by early postural instability （25.5%）, pseudobulbar palsy （9.8%）, cognitive impairment （9.8%）, and vertical supranuclear ophthalmoplegia （7.8%）. With disease progression, vertical supranuclear ophthalmoplegia was reported in 95.1% of cases, followed by akinetic-rigid features （83.3%）, pseudobulbar palsy （82.4%）, axial dystonia （75.5%）, cognitive impairment （72.5%）, and early postural instability （69.6%）. A total of 70.5% of patients exhibited abnormal electroencephalograms, and 21.4% exhibited mild abnormalities in cerebrospinal fluid. Brain CT scanning results of 37 patients showed 37.8% with midbrain and concurrent cerebral hemisphere atrophy, and 5.4% and 24.3% with midbrain and cerebral hemisphere atrophy, respectively. Brain MRI scanning results of 55 patients revealed a total of 16.4% patients with midbrain atrophy, 23.6% with midbrain and concurrent cerebral hemisphere atrophy, 32.7% with cerebral hemisphere atrophy, and 11% with brainstem atrophy. The percentage of midbrain atrophy revealed by MRI was greater than by CT. All 11 patients subjected to Mini-Mental State Examination scored 〈 23. A total of 10 patients underwent brain electrophysiological examination, and 80% presented with abnormalities of cerebral-evoked potential. A total of 33.3% patients presented with neurogenic damage of anal sphincter electromyography. Nine cases were neuropathologically diagnosed, and all displayed tau-positive argyrophilic globous neurofibrillary tangles, tuft-shaped astrocytes, and coiled bodies. Gene diagnosis was not performed. A total of 40 patients were misdiagnosed, including 23 （58%） as Parkinson＇s disease and seven （18%） as Parkinsonism; 44 patients were treated by madopar, artane, or amantadine, and only seven （16%） improved in movement. No patients exhibited improved eye movement. Of 4 patients treated with madopar and dopa agonists, 2 improved in movement. In addition, movement improved in 3 patients treated with madopar and monoamine oxidase B. CONCLUSION： PSP is a sporadic disease that often strikes middle or elderly individuals. There are no significant differences in age of onset between male and female patients, although disease progression is more rapid in female patients, likely because the time from symptom onset to disease diagnosis in females is less than in male. Akinetic-rigid features and early postural instability are the most common symptoms of onset. With disease progression, the incidence of vertical supranuclear ophthalmoplegia and akinetic-rigid features increases. MRI is a common, sensitive, and noninvasive supplemental test. However, PSP is frequently misdiagnosed as Parkinson＇s disease or Parkinsonism during the early stage, and anti-Parkinson treatments remain ineffective.
基金The study has been funded by the Chulalongkorn Academic Advancement Fund into Its second Century Project of Chulalongkorn University(2300042200)a Center of Excellence grant from Chulalongkorn University(GCE 6100930004-1).
文摘differential diagnosis.PSP presents a range of ocular abnormalities that have been suggested as optional tools for its early detection,apart from the principal characteristic of postural unsteadiness.Nonetheless,such symptoms may be difficult to identify,particularly during the early onset stage of the disorder.It may also be problematic to recognize these symptoms for general practitioners who lack the required experience or physicians who are not specifically educated and proficient in ophthalmology or neurology.Main body:Thus,here,a methodical evaluation was carried out to identify seven oculomotor abnormalities occurring in PSP,comprising square wave jerks,the speed and range of saccades(slow saccades and vertical supranuclear gaze palsy),‘round the houses’sign,decreased blink rate,blepharospasm,and apraxia of eyelid opening.Inspections were conducted using direct visual observation.An approach to distinguish these signs during a bedside examination was also established.When presenting in a patient with parkinsonism or dementia,the existence of such ocular abnormalities could increase the risk of PSP.For the distinction between PSP and other parkinsonian disorders,these signs hold significant value for physicians.Conclusion:The authors urge all concerned physicians to check for such abnormalities with the naked eye in patients with parkinsonism.This method has advantages,including ease of application,reduced time-consumption,and requirement of minimal resources.It will also help physicians to conduct efficient diagnoses since many patients with PSP could intially present with ocular symptoms in busy outpatient clinics.
文摘Fahr＇s disease, or idiopathic basal ganglia calcification （IBGC）, is a rare neurological syndrome characterized by abnormal calcified deposits located mostly in bilateral basal ganglia and dentate nucleus, and also in cerebral cortex, thalamus, hippocampus, cerebellar, and subcortical white matter. Clinically, it presents various symptoms, including parkinsonism （presented in 57% of the patientsL chorea （ 19%）, tremors （8%）, dystonia （8%）, athetosis （5%）~ and orofacial dyskinesia （3%）.
文摘目的系统评价血清神经丝轻链蛋白(neurofilament light chain protein,NfL)在神经退行性疾病及不同认知损害程度患者中的变化。方法计算机检索PubMed、Embase、Web of Science、中国知网、万方和中国生物医学文献库数据库,纳入阿尔茨海默病(Alzheimer's disease,AD)、帕金森病(Parkinson's disease,PD)、多系统萎缩(multiple system atrophy,MSA)、进行性核上性麻痹(progressive supranuclear palsy,PSP)患者和健康对照均有血清NfL值的队列或病例对照研究,检索时间为建库至2023年4月30日。使用纽卡斯尔-渥太华量表评价纳入研究的风险偏倚,采用RevMan 5.4软件统计分析暴露组与非暴露组间的血清NfL值差异,合并效应量采用标准均数差(standard mean difference,SMD)及95%可信区间(confidence interval,CI)表示。结果纳入43篇文献,共提取了62项对比研究。对PD、AD、MSA、PSP与各自健康对照组分组比较,四组分别纳入9项、24项、9项、8项研究。PD组[SMD=0.27,95%CI(0.17,0.36)]、AD组[SMD=0.97,95%CI(0.70,1.23)]、MSA组[SMD=1.51,95%CI(0.97,2.05)]、PSP组[SMD=1.54,95%CI(1.14,1.93)]血清NfL水平均高于各自健康对照组。对帕金森病认知正常(PD normal cognitive,PD-NC)与帕金森病痴呆(PD with dementia,PD-D)、阿尔茨海默病轻度认知减退(AD mild cognitive impairment,AD-MCI)与阿尔茨海默病痴呆(AD with dementia,AD-D)分组比较,两对比组分别纳入3项和9项研究,PD-D患者血清NfL水平高于PD-NC患者[SMD=0.92,95%CI(0.63,1.20)],AD-D患者血清NfL水平高于AD-MCI患者[SMD=0.61,95%CI(0.49,0.72)]。结论PD、AD、MSA、PSP患者血清NfL水平较健康人群升高,且认知损害程度越大,血清NfL水平越高,血清NfL可能是神经退行性疾病潜在的外周生物标志物,能够进一步反映认知水平的下降。
