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
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 report the clinical manifestations,structural and functional imaging features of 3 patients with progressive supranuclear palsy with predominant cerebellar ataxia(PSP-C)assisted by florzolotau(^(18)F)posi...Objective To report the clinical manifestations,structural and functional imaging features of 3 patients with progressive supranuclear palsy with predominant cerebellar ataxia(PSP-C)assisted by florzolotau(^(18)F)positron emission tomography(tau PET)imaging,and conduct a literature review,aiming to provide a basis for the diagnosis and treatment of this rare type of PSP.Methods The clinical data,brain magnetic resonance imaging,^(18)F-fluorodeoxyglucose PET(^(18)F-FDG PET)and tau PET head imaging features of 3 patients with PSP-C who were admitted to the Department of Neurology,Peking Union Medical College Hospital from January 2019 to December 2021 were summarized,and a systematic review of related case reports or series studies from China and abroad was conducted.Results The age of onset of the 3 patients was 55-61 years,and the disease duration was 2-5 years at the time of diagnosis.All patients had an onset of instable walking and had repeated falls,and the duration between fall and disease onset was 0.5-3.0 years,with an average of 1.5 years.At the time of diagnosis,all patients showed gait ataxia with or without limb ataxia.The results of the brain magnetic resonance imaging showed that all patients had midbrain atrophy and midbrain-to-pons ratio<0.52.The tau PET results of all patients showed significant tau protein deposition in the midbrain and mild to moderate tau protein deposition in the cerebellum,and case 2 had concomitant mild tau protein deposition in the prefrontal lobe and decreased ^(18)F-FDG PET metabolism in this region,supporting the diagnosis of PSP.Literature review showed that 24 patients with PSP complicated with cerebellar ataxia were reported,and 23 patients provided detailed clinical data.All patients had gait ataxia on physical examination and the clinical manifestations were consistent with those of this group.Conclusion PSP-C is characterized by early gait ataxia and falls as the core manifestations.Structural imaging shows mesencephalic atrophy,and tau PET shows mesencephalic and cerebellar uptake.In the case of atypical PSP,head magnetic resonance imaging combined with tau PET imaging is helpful to further determine the diagnosis of PSP.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
目的比较几种磁共振线性测量指标在鉴别进行性核上性麻痹(progressive supranuclear palsy,PSP)与帕金森病(Parkinson disease,PD)上的应用价值。方法纳入临床可能的和很可能的PSP患者28例、PD患者30例和健康对照30名,测量计算中脑与桥...目的比较几种磁共振线性测量指标在鉴别进行性核上性麻痹(progressive supranuclear palsy,PSP)与帕金森病(Parkinson disease,PD)上的应用价值。方法纳入临床可能的和很可能的PSP患者28例、PD患者30例和健康对照30名,测量计算中脑与桥脑直径比(midbrain diameter/pons diameter,Md/Pd)、第三脑室宽度与额角最大间距比(width of third ventricle/distance of frontal horns,V3rd/FH)、中脑被盖部直径(midbrain tegmentum diameter,MTEG)以及大脑脚角度(angle of cerebral peduncle,ACP),并对它们作为PSP诊断指标的敏感性和特异性进行比较。结果 PSP组患者Md/Pd和MTEG小于PD组和健康对照组,V3rd/FH和ACP大于PD组和健康对照组,且差异有统计学意义。PD组与健康对照组的各项指标差异无统计学意义。通过曲线下面积(area under curve,AUC)的计算,Md/Pd诊断PSP的价值最高,其次是MTEG,其中Md/Pd在约登指数最高点诊断PSP的敏感性和特异性分别达到100%和98.2%。结论 Md/Pd、V3rd/FH、MTEG和ACP几种线性测量指标均对PSP与PD的鉴别有诊断价值,Md/Pd敏感性和特异性最高,最适于临床推广应用,MTEG测量也简单直观,敏感性和特异性也比较高,V3rd/FH和ACP对鉴别诊断也有一定的提示作用。展开更多
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 report the clinical manifestations,structural and functional imaging features of 3 patients with progressive supranuclear palsy with predominant cerebellar ataxia(PSP-C)assisted by florzolotau(^(18)F)positron emission tomography(tau PET)imaging,and conduct a literature review,aiming to provide a basis for the diagnosis and treatment of this rare type of PSP.Methods The clinical data,brain magnetic resonance imaging,^(18)F-fluorodeoxyglucose PET(^(18)F-FDG PET)and tau PET head imaging features of 3 patients with PSP-C who were admitted to the Department of Neurology,Peking Union Medical College Hospital from January 2019 to December 2021 were summarized,and a systematic review of related case reports or series studies from China and abroad was conducted.Results The age of onset of the 3 patients was 55-61 years,and the disease duration was 2-5 years at the time of diagnosis.All patients had an onset of instable walking and had repeated falls,and the duration between fall and disease onset was 0.5-3.0 years,with an average of 1.5 years.At the time of diagnosis,all patients showed gait ataxia with or without limb ataxia.The results of the brain magnetic resonance imaging showed that all patients had midbrain atrophy and midbrain-to-pons ratio<0.52.The tau PET results of all patients showed significant tau protein deposition in the midbrain and mild to moderate tau protein deposition in the cerebellum,and case 2 had concomitant mild tau protein deposition in the prefrontal lobe and decreased ^(18)F-FDG PET metabolism in this region,supporting the diagnosis of PSP.Literature review showed that 24 patients with PSP complicated with cerebellar ataxia were reported,and 23 patients provided detailed clinical data.All patients had gait ataxia on physical examination and the clinical manifestations were consistent with those of this group.Conclusion PSP-C is characterized by early gait ataxia and falls as the core manifestations.Structural imaging shows mesencephalic atrophy,and tau PET shows mesencephalic and cerebellar uptake.In the case of atypical PSP,head magnetic resonance imaging combined with tau PET imaging is helpful to further determine the diagnosis of PSP.
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.
文摘目的比较几种磁共振线性测量指标在鉴别进行性核上性麻痹(progressive supranuclear palsy,PSP)与帕金森病(Parkinson disease,PD)上的应用价值。方法纳入临床可能的和很可能的PSP患者28例、PD患者30例和健康对照30名,测量计算中脑与桥脑直径比(midbrain diameter/pons diameter,Md/Pd)、第三脑室宽度与额角最大间距比(width of third ventricle/distance of frontal horns,V3rd/FH)、中脑被盖部直径(midbrain tegmentum diameter,MTEG)以及大脑脚角度(angle of cerebral peduncle,ACP),并对它们作为PSP诊断指标的敏感性和特异性进行比较。结果 PSP组患者Md/Pd和MTEG小于PD组和健康对照组,V3rd/FH和ACP大于PD组和健康对照组,且差异有统计学意义。PD组与健康对照组的各项指标差异无统计学意义。通过曲线下面积(area under curve,AUC)的计算,Md/Pd诊断PSP的价值最高,其次是MTEG,其中Md/Pd在约登指数最高点诊断PSP的敏感性和特异性分别达到100%和98.2%。结论 Md/Pd、V3rd/FH、MTEG和ACP几种线性测量指标均对PSP与PD的鉴别有诊断价值,Md/Pd敏感性和特异性最高,最适于临床推广应用,MTEG测量也简单直观,敏感性和特异性也比较高,V3rd/FH和ACP对鉴别诊断也有一定的提示作用。
