Journal of Neurodegenerative Diseases最新文献_第3页

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family. MFN2 V705I变异不是致病突变:CMT2家族的分离分析

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2012-11-28 DOI: 10.1155/2013/495873

Obaid M Albulym, Danqing Zhu, Stephen Reddel, Marina Kennerson, Garth Nicholson

引用次数: 5

Increasing Membrane Cholesterol Level Increases the Amyloidogenic Peptide by Enhancing the Expression of Phospholipase C. 提高细胞膜胆固醇水平可通过增强磷脂酶 C 的表达来增加淀粉样蛋白生成肽。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2013-03-07 DOI: 10.1155/2013/407903

Yoon Sun Chun, Hyun Geun Oh, Myoung Kyu Park, Tae-Wan Kim, Sungkwon Chung

{"title":"Increasing Membrane Cholesterol Level Increases the Amyloidogenic Peptide by Enhancing the Expression of Phospholipase C.","authors":"Yoon Sun Chun, Hyun Geun Oh, Myoung Kyu Park, Tae-Wan Kim, Sungkwon Chung","doi":"10.1155/2013/407903","DOIUrl":"10.1155/2013/407903","url":null,"abstract":"Cerebral elevation of 42-residue amyloid β-peptide (Aβ42) triggers neuronal dysfunction in Alzheimer's disease (AD). Even though a number of cholesterol modulating agents have been shown to affect Aβ generation, the role of cholesterol in the pathogenesis of AD is not clear yet. Recently, we have shown that increased membrane cholesterol levels downregulates phosphatidylinositol 4,5-bisphosphate (PIP2) via activation of phospholipase C (PLC). In this study, we tested whether membrane cholesterol levels may affect the Aβ42 production via changing PIP2 levels. Increasing membrane cholesterol levels decreased PIP2 and increased secreted Aβ42. Supplying PIP2, by using a PIP2-carrier system, blocked the effect of cholesterol on Aβ42. We also found that cholesterol increased the expressions of β1 and β3 PLC isoforms (PLCβ1, PLCβ3). Silencing the expression of PLCβ1 prevented the effects of cholesterol on PIP2 levels as well as on Aβ42 production, suggesting that increased membrane cholesterol levels increased secreted Aβ42 by downregulating PIP2 via enhancing the expression of PLCβ1. Thus, cholesterol metabolism may be linked to Aβ42 levels via PLCβ1 expression and subsequent changes in PIP2 metabolism. ","PeriodicalId":16405,"journal":{"name":"Journal of Neurodegenerative Diseases","volume":"2013 ","pages":"407903"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33957298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sex Differences in Presynaptic Density and Neurogenesis in Middle-Aged ApoE4 and ApoE Knockout Mice. 中年ApoE4和ApoE敲除小鼠突触前密度和神经发生的性别差异。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2013-01-27 DOI: 10.1155/2013/531326

A Rijpma, D Jansen, I A C Arnoldussen, X T Fang, M Wiesmann, M P C Mutsaers, P J Dederen, C I F Janssen, A J Kiliaan

{"title":"Sex Differences in Presynaptic Density and Neurogenesis in Middle-Aged ApoE4 and ApoE Knockout Mice.","authors":"A Rijpma, D Jansen, I A C Arnoldussen, X T Fang, M Wiesmann, M P C Mutsaers, P J Dederen, C I F Janssen, A J Kiliaan","doi":"10.1155/2013/531326","DOIUrl":"https://doi.org/10.1155/2013/531326","url":null,"abstract":"Atherosclerosis and apolipoprotein E ε4 (APOE4) genotype are risk factors for Alzheimer's disease (AD) and cardiovascular disease (CVD). Sex differences exist in prevalence and manifestation of both diseases. We investigated sex differences respective to aging, focusing on cognitive parameters in apoE4 and apoE knockout (ko) mouse models of AD and CVD. Presynaptic density and neurogenesis were investigated immunohistochemically in male and female apoE4, apoE ko, and wild-type mice. Middle-aged female apoE4 mice showed decreased presynaptic density in the inner molecular layer of the dentate gyrus of the hippocampus. Middle-aged female apoE ko mice showed a trend towards increased neurogenesis in the hippocampus compared with wild-type mice. No differences in these parameters could be observed in middle-aged male mice. Specific harmful interactions between apoE4 and estrogen could be responsible for decreased presynaptic density in female apoE4 mice. The trend of increased neurogenesis found in female apoE ko mice supports previous studies suggesting that temporarily increased amount of synaptic contacts and/or neurogenesis is a compensatory mechanism for synaptic failure. To our knowledge, no other studies investigating presynaptic density in aging female apoE4 or apoE ko mice are available. Sex-specific differences between APOE genotypes could account for some sex differences in AD and CVD. ","PeriodicalId":16405,"journal":{"name":"Journal of Neurodegenerative Diseases","volume":"2013 ","pages":"531326"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/531326","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33959373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 26

Cerebrospinal Fluid Biomarkers for Kii Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex. Kii肌萎缩性侧索硬化/帕金森-痴呆复合体的脑脊液生物标志物。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2013-03-27 DOI: 10.1155/2013/679089

Yui Nakayama, Satoru Morimoto, Misao Yoneda, Shigeki Kuzuhara, Yasumasa Kokubo

{"title":"Cerebrospinal Fluid Biomarkers for Kii Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex.","authors":"Yui Nakayama, Satoru Morimoto, Misao Yoneda, Shigeki Kuzuhara, Yasumasa Kokubo","doi":"10.1155/2013/679089","DOIUrl":"https://doi.org/10.1155/2013/679089","url":null,"abstract":"Objective. Amyotrophic lateral sclerosis/parkinsonism-dementia complex is classified as one of the tauopathies. Methods. The total tau, phosphorylated tau, and amyloid β42 levels were assayed in cerebrospinal fluid from patients with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex (n = 12), Alzheimer's disease (n = 9), Parkinson's disease (n = 9), amyotrophic lateral sclerosis (n = 11), and controls (n = 5) using specific enzyme-linked immunosorbent assay methods. Results. Total tau and phosphorylated tau did not increase and amyloid β42 was relatively reduced in Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex. Relatively reduced amyloid β42 might discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from amyotrophic lateral sclerosis and Parkinson's disease, and the ratios of phosphorylated-tau to amyloid β42 could discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer's disease. Conclusions. Cerebrospinal fluid analysis may be useful to differentiate amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer's disease, amyotrophic lateral sclerosis, and Parkinson's disease. ","PeriodicalId":16405,"journal":{"name":"Journal of Neurodegenerative Diseases","volume":"2013 ","pages":"679089"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/679089","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33959376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies. 肌强直性营养不良患者的睡眠-觉醒周期和日间嗜睡。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2013-11-04 DOI: 10.1155/2013/692026

A Romigi, M Albanese, C Liguori, F Placidi, M G Marciani, R Massa

引用次数: 25

Obstacle Avoidance amongst Parkinson Disease Patients Is Challenged in a Threatening Context. 帕金森氏症患者在威胁情境下的避障挑战

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2013-05-15 DOI: 10.1155/2013/787861

Jon B Doan, Natalie de Bruin, Sergio M Pellis, Oksana Suchowersky, Ian Q Whishaw, Lesley A Brown

{"title":"Obstacle Avoidance amongst Parkinson Disease Patients Is Challenged in a Threatening Context.","authors":"Jon B Doan, Natalie de Bruin, Sergio M Pellis, Oksana Suchowersky, Ian Q Whishaw, Lesley A Brown","doi":"10.1155/2013/787861","DOIUrl":"https://doi.org/10.1155/2013/787861","url":null,"abstract":"We examined whether people with Parkinson disease (PD) have difficulty negotiating a gait obstruction in threatening (gait path and obstacle raised above floor) and nonthreatening (gait path and obstacle at floor level) contexts. Ten PD patients were tested in both Meds OFF and Meds ON states, along with 10 age-matched controls. Participants completed 18 gait trials, walking 4.7 m at a self-selected speed while attempting to cross an obstacle 0.15 m in height placed near the centre point of the walkway. Kinematic and kinetic parameters were measured, and obstacle contact errors were tallied. Results indicated that PD patients made more obstacle contacts than control participants in the threatening context. Successful crossings by PD patients in the threatening condition also exhibited kinematic differences, with Meds OFF PD patients making shorter crossing steps, with decreased initiation and crossing velocities. The findings from this study lend support to the theory that PD patients rely on directed attention to initiate and control movement, while providing indication that the motor improvements provided by current PD pharmacotherapy may be limited by contextual interference. These movement patterns may be placing PD patients at risk of obstacle contact and falling. ","PeriodicalId":16405,"journal":{"name":"Journal of Neurodegenerative Diseases","volume":"2013 ","pages":"787861"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34129115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Evaluative Conditioning with Facial Stimuli in Dementia Patients. 痴呆患者面部刺激的评价条件反射。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2012-09-04 DOI: 10.1155/2013/854643

Andreas Blessing, Jacqueline Zöllig, Roland Weierstall, Gerhard Dammann, Mike Martin

引用次数: 3

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy. 阿尔及利亚脊髓肌肉萎缩症患者的临床和遗传学研究。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2013-03-24 DOI: 10.1155/2013/903875

Y Sifi, K Sifi, A Boulefkhad, N Abadi, Z Bouderda, R Cheriet, M Magen, J P Bonnefont, A Munnich, C Benlatreche, A Hamri

{"title":"Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.","authors":"Y Sifi, K Sifi, A Boulefkhad, N Abadi, Z Bouderda, R Cheriet, M Magen, J P Bonnefont, A Munnich, C Benlatreche, A Hamri","doi":"10.1155/2013/903875","DOIUrl":"10.1155/2013/903875","url":null,"abstract":"Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disorder. It is divided into the acute Werdnig-Hoffmann disease (type I), the intermediate form (type II), the Kugelberg-Welander disease (type III), and the adult form (type IV). The gene involved in all four forms of SMA, the so-called survival motor neuron (SMN) gene, is duplicated, with a telomeric (tel SMN or SMN1) and a centromeric copy (cent SMN or SMN2). SMN1 is homozygously deleted in over 95% of SMA patients. Another candidate gene in SMA is the neuronal apoptosis inhibitory protein (NAIP) gene; it shows homozygous deletions in 45-67% of type I and 20-42% of type II/type III patients. Here we studied the SMN and NAIP genes in 92 Algerian SMA patients (20 type I, 16 type II, 53 type III, and 3 type IV) from 57 unrelated families, using a semiquantitative PCR approach. Homozygous deletions of SMN1 exons 7 and/or 8 were found in 75% of the families. Deletions of exon 4 and/or 5 of the NAIP gene were found in around 25%. Conversely, the quantitative analysis of SMN2 copies showed a significant correlation between SMN2 copy number and the type of SMA. ","PeriodicalId":16405,"journal":{"name":"Journal of Neurodegenerative Diseases","volume":"2013 ","pages":"903875"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34129119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Oxidative Stress and Its Clinical Applications in Dementia. 氧化应激及其在痴呆症中的临床应用。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2012-08-30 DOI: 10.1155/2013/319898

Peizhong Mao

引用次数: 0

Neuroprotection by Exendin-4 Is GLP-1 Receptor Specific but DA D3 Receptor Dependent, Causing Altered BrdU Incorporation in Subventricular Zone and Substantia Nigra. Exendin-4的神经保护作用是GLP-1受体特异性的，但依赖于DA D3受体，导致BrdU在脑室下区和黑质的结合改变。

Journal of Neurodegenerative Diseases Pub Date : 2013-01-01 Epub Date: 2013-11-21 DOI: 10.1155/2013/407152

A Harkavyi, N Rampersaud, P S Whitton

{"title":"Neuroprotection by Exendin-4 Is GLP-1 Receptor Specific but DA D3 Receptor Dependent, Causing Altered BrdU Incorporation in Subventricular Zone and Substantia Nigra.","authors":"A Harkavyi, N Rampersaud, P S Whitton","doi":"10.1155/2013/407152","DOIUrl":"https://doi.org/10.1155/2013/407152","url":null,"abstract":"Glucagon-like peptide-1 receptor (GLP-1R) activation by exendin-4 (EX-4) is effective in preclinical models of Parkinson's disease (PD) and appears to promote neurogenesis even in severely lesioned rats. In the present study, we determined the effects of EX-4 on cellular BrdU incorporation in the rat subventricular zone (SVZ) and substantia nigra (SN). We also determined the specificity of this effect with the GLP-1R antagonist EX-(9-39) as well as the potential role of dopamine (DA) D3 receptors. Rats were administered 6-OHDA and 1 week later given EX-4 alone, with EX-(9-39) or nafadotride (D3 antagonist) and BrdU. Seven days later, rats were challenged with apomorphine to evaluate circling. Extracellular DA was measured using striatal microdialysis and subsequently tissue DA measured. Tyrosine hydroxylase and BrdU were verified using immunohistochemistry. Apomorphine circling was reversed by EX-4 in lesioned rats, an effect reduced by EX-4, while both EX-(9-39) and NAF attenuated this. 6-OHDA decreased extracellular and tissue DA, both reversed by EX-4 but again attenuated by EX-(9-39) or NAF. Analysis of BrdU+ cells in the SVZ revealed increases in 6-OHDA-treated rats which were reversed by EX-4 and antagonised by either EX-(9-39) or NAF, while in the SN the opposite profile was seen. ","PeriodicalId":16405,"journal":{"name":"Journal of Neurodegenerative Diseases","volume":"2013 ","pages":"407152"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/407152","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33957297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 11