Parkinson’s disease(PD,OMIM#168600)is a common neurodegenerative disorder with a global prevalence of approximately 8.5 million.PD is characterized by four cardinal motor symptoms:bradykinesia,rigidity,resting tremor...Parkinson’s disease(PD,OMIM#168600)is a common neurodegenerative disorder with a global prevalence of approximately 8.5 million.PD is characterized by four cardinal motor symptoms:bradykinesia,rigidity,resting tremor,and subsequently by postural instability.It usually involves non-motor symptoms such as rapid eye movement sleep disorder,dementia,anosmia,and autonomic dysfunction.The gene glucocerebrosidase 1(GBA1),which encodes the lysosomal enzyme glucocerebrosidase(GCase)(IUBMB:EC 3.2.1.45),shows strong linkage with PD;variants of GBA1 are the commonest genetic association with PD(Sidransky et al.,2009).Several mechanisms may underlie the relationship between GBA1 mutations/variants and the molecular pathology of PD(Figure 1A and B).展开更多
In medical research,there are times when the introduction of a new tool can launch scientific discovery in new directions.While antibody development may be considered mundane,in the field of glucocerebrosidase(GCase)r...In medical research,there are times when the introduction of a new tool can launch scientific discovery in new directions.While antibody development may be considered mundane,in the field of glucocerebrosidase(GCase)research,the dearth of validated antibodies for different applications has impeded progress in studies of disease pathogenesis and therapeutic development.The recent introduction of new,rigorously evaluated antibodies can now propel research into the link between glucocerebrosidase and Parkinson’s disease(PD)as well as aspects of the pathobiology of Gaucher disease(Jong et al.,2024).展开更多
Previous studies show that chronic acrylamide exposure leads to central and peripheral neu- ropathy. However, the underlying mechanisms remained unclear. In this study, we examined the permeability of the blood-cerebr...Previous studies show that chronic acrylamide exposure leads to central and peripheral neu- ropathy. However, the underlying mechanisms remained unclear. In this study, we examined the permeability of the blood-cerebrospinal fluid barrier, and its ability to secrete transthyretin and transport leptin of rats exposed to acrylamide for 7, 14, 21 or 28 days. Transthyretin levels in cerebrospinal fluid began to decline on day 7 after acrylamide exposure. The sodium fluorescein level in cerebrospinal fluid was increased on day 14 after exposure. Evans blue concentration in cerebrospinal fluid was increased and the cerebrospinal fluid/serum leptin ratio was decreased on days 21 and 28 after exposure. In comparison, the cerebrospinal fluid/serum albumin ratio was increased on day 28 after exposure. Our findings show that acrylamide exposure damages the blood-cerebrospinal fluid barrier and impairs secretory and transport functions. These changes may underlie acrylamide-induced neurotoxicity.展开更多
Acute cerebro-vascular diseases orcerebro-vascular accidents are common dis-eases of the nervous system,including tran-sient cerebro-ischemic attacks,atherosclerotic cerebral infarction,cerebralembolism,hypertensive c...Acute cerebro-vascular diseases orcerebro-vascular accidents are common dis-eases of the nervous system,including tran-sient cerebro-ischemic attacks,atherosclerotic cerebral infarction,cerebralembolism,hypertensive cerebropathy,subarachnoid hemorrhage,hypertensive cer-ebral hemorrhage,etc.展开更多
Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering fr...Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.展开更多
Objective To analyze the association between the concentration of ambient inhalable particulate matter(PM10) and population mortality for cerebrovascular diseases and to explore the impact of PM10 on
基金supported by Department of Clinical and Movement Neurosciences,UCL Queen Square Institute of Neurology,London,United Kingdom,WC1N 3BGAligning Science Across Parkinson’s(ASAP)Collaborative Research Network,Chevy Chase,MD,United States(to AHVS)。
文摘Parkinson’s disease(PD,OMIM#168600)is a common neurodegenerative disorder with a global prevalence of approximately 8.5 million.PD is characterized by four cardinal motor symptoms:bradykinesia,rigidity,resting tremor,and subsequently by postural instability.It usually involves non-motor symptoms such as rapid eye movement sleep disorder,dementia,anosmia,and autonomic dysfunction.The gene glucocerebrosidase 1(GBA1),which encodes the lysosomal enzyme glucocerebrosidase(GCase)(IUBMB:EC 3.2.1.45),shows strong linkage with PD;variants of GBA1 are the commonest genetic association with PD(Sidransky et al.,2009).Several mechanisms may underlie the relationship between GBA1 mutations/variants and the molecular pathology of PD(Figure 1A and B).
文摘In medical research,there are times when the introduction of a new tool can launch scientific discovery in new directions.While antibody development may be considered mundane,in the field of glucocerebrosidase(GCase)research,the dearth of validated antibodies for different applications has impeded progress in studies of disease pathogenesis and therapeutic development.The recent introduction of new,rigorously evaluated antibodies can now propel research into the link between glucocerebrosidase and Parkinson’s disease(PD)as well as aspects of the pathobiology of Gaucher disease(Jong et al.,2024).
基金supported by State Key Development Program for Basic Research of China,No.2012CB525002the National Natural Science Foundation of China,No.30771823
文摘Previous studies show that chronic acrylamide exposure leads to central and peripheral neu- ropathy. However, the underlying mechanisms remained unclear. In this study, we examined the permeability of the blood-cerebrospinal fluid barrier, and its ability to secrete transthyretin and transport leptin of rats exposed to acrylamide for 7, 14, 21 or 28 days. Transthyretin levels in cerebrospinal fluid began to decline on day 7 after acrylamide exposure. The sodium fluorescein level in cerebrospinal fluid was increased on day 14 after exposure. Evans blue concentration in cerebrospinal fluid was increased and the cerebrospinal fluid/serum leptin ratio was decreased on days 21 and 28 after exposure. In comparison, the cerebrospinal fluid/serum albumin ratio was increased on day 28 after exposure. Our findings show that acrylamide exposure damages the blood-cerebrospinal fluid barrier and impairs secretory and transport functions. These changes may underlie acrylamide-induced neurotoxicity.
文摘Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.
文摘Objective To analyze the association between the concentration of ambient inhalable particulate matter(PM10) and population mortality for cerebrovascular diseases and to explore the impact of PM10 on
文摘目的：探讨右美托咪定对颅内肿瘤手术患者脑脊液中兴奋性和抑制性氨基酸的影响和右美托咪定在神经外科手术中的脑保护机制。方法选择择期脑肿瘤手术患者60例,年龄18-64岁,ASA Ⅰ或Ⅱ级,性别不限,体重50-90 kg。随机均分为两组：右美托咪定组（D 组）和对照组（C 组）。麻醉诱导前 D 组静脉输注右美托咪定1μg/kg,10 min 注完,C 组静脉注射咪达唑仑0.03-0.05 mg/kg。D 组持续静脉泵注右美托咪定0.2-0.7μg·kg-1·h-1,C 组间断给予咪达唑仑0.03-0.05 mg/kg。维持 BIS 值在40-50。记录麻醉诱导前（T0）、切开硬脑膜（T1）、切除肿瘤时（T2）、手术结束时（T3）的 MAP、HR。并于 T0、T3、术后6 h（T4）、12 h （T5）、24 h（T6）收集脑脊液,用高效液相色谱法检测脑脊液中兴奋性氨基酸谷氨酸（Glu）、天门冬氨酸（Asp）和抑制性氨基酸γ-氨基丁酸（GABA）的浓度。结果 T1-T3时 D 组 MAP 明显低于,HR 明显慢于 T0时和 C 组（P 〈0.05）。T3-T6时脑脊液中 C 组 Glu、Asp 浓度明显高于 T0时和 D 组（P 〈0.05）,GABA 浓度明显低于 D 组（P 〈0.05）。与 T0时比较,T3-T5时 D 组 Glu、Asp 浓度有升高、GABA 浓度有降低趋势,但差异无统计学意义,T6时恢复到 T0时水平。结论右美托咪定用于颅内肿瘤手术中可维持血流动力学稳定性,降低脑脊液中兴奋性氨基酸 Glu 和 Asp 浓度,有一定的脑保护作用。
