scholarly journals CORTICOBASAL SYNDROME DUE TO ALZHEIMER’S DISEASE

2021 ◽  
Author(s):  
Mariana Maciel Pinheiro ◽  
Victor Albuquerque ◽  
Pedro Albuquerque ◽  
Eduardo Maranhão ◽  
Jonathan Diniz ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Language Impairment ◽  
Brain Mri ◽  
Corticobasal Syndrome ◽  
Csf Biomarkers ◽  
College Level ◽  
Early Onset Dementia ◽  
Ideomotor Apraxia ◽  
Disease Modifying Agents

Background: Corticobasal Syndrome (CBS) is a neurodegenerative syndrome that combines cortical and cognitive deficits secondary to different underlying pathological entities. Objectives: to report an early onset dementia case fulfilling criteria of probable CBS due to Alzheimer’s Disease (AD) based on biomarkers and neuroimaging. Methods: case report. Results: a 57-yearsold woman with college-level education and 18 months of cognitive decline. The first symptom was progressive inability to change gears in her car, followed by difficulties to get dressed, cognitive and motor complaints. Neurological examination revealed marked limb bilateral ideomotor apraxia and mild asymetric parkinsonism. Cognitive tests showed mild visuospatial and language impairments, scoring 18/30 in the MoCA. Brain MRI and FDG PET showed bilateral posterior atrophy and hypometabolism worse to the left. CSF biomarkers revealed decreased amyloid and increased tau and p-tau levels, a pattern suggestive of CBS due to AD. Conclusions: this case illustrates recent evidence that suggests when AD presents as CBS (CBS-AD), limb apraxia and language impairment are more prevalent. CBS patients with underlying AD pathology and tauopathies correctly diagnosed in the future may benefit from symptomatic therapies and future disease-modifying agents.

scholarly journals Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer’s Disease: Data from the PUMCH Dementia Cohort

2021 ◽  
pp. 1-8
Author(s):  
Liling Dong ◽  
Chenhui Mao ◽  
Caiyan Liu ◽  
Jie Li ◽  
Xinying Huang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Brain Mri ◽  
Apoe Genotype ◽  
Csf Biomarkers ◽  
Common Variants ◽  
College Hospital ◽  
Coding Regions ◽  
The Common

Background: The previous studies have identified several genes in relation to Alzheimer’s disease (AD), such as ABCA7, CR1, etc. A few studies have explored the association between the common variants, mainly in the non-coding regions of these genes, and cerebrospinal fluid (CSF) biomarkers. Fewer studies target the variants in the coding regions. Objective: To illustrate the association between the common variants within or adjacent to the coding regions of AD susceptible genes and CSF biomarkers in AD patients. Methods: 75 sporadic probable AD patients were extracted from the dementia cohort of Peking Union Medical College Hospital. They all had history inquiry, physical examination, blood test, cognitive assessment, brain MRI, CSF testing of Aβ42, 181p-tau, and t-tau, and next-generation DNA sequencing. Sixty-nine common single nucleotide polymorphisms (SNPs) (minor allele frequency > 0.01) within or near the coding region of 13 AD susceptible genes were included in the analysis. Results: The rs7412-CC (APOE) genotype showed lower CSF Aβ42 level and higher p-tau/Aβ42 ratio than the rs7412-CT genotype. The rs3752246-C (ABCA7) allele correlated with lower CSF Aβ42 level. The alternate alleles of six ABCA7 SNPs were related to lower CSF p-tau, including rs3745842, rs3764648, rs3764652, rs4147930, rs4147934 and rs881768. The rs11609582-TT (A2M) genotype showed higher CSF p-tau than the rs11609582-TA genotype. The p-tau/Aβ42 ratio was higher in the rs490460-TT (BACE1) genotype relative to the rs490460-GT genotype. Conclusion: Some common variants within or near the coding regions of APOE, ABCA7, A2M, and BACE1 are associated with CSF Aβ42, p-tau. or p-tau/Aβ42.

scholarly journals Cortical complexity analyses and their cognitive correlate in Alzheimer’s disease and frontotemporal dementia

2019 ◽  
Author(s):  
Nicolas Nicastro ◽  
Maura Malpetti ◽  
Thomas E. Cope ◽  
William Richard Bevan-Jones ◽  
Elijah Mak ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Fractal Dimension ◽  
Frontotemporal Dementia ◽  
Language Impairment ◽  
Brain Mri ◽  
Gene Mutations ◽  
Distinct Pattern ◽  
Complexity Measures ◽  
Diagnostic Strategies

ABSTRACTThe changes of cortical structure in Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are usually described in terms of atrophy. However, neurodegenerative diseases may also affect the complexity of cortical shape, such as the fractal dimension of the brain surface. Thirty-two people with symptomatic AD-pathology (clinically probable AD, n=18, and amyloid-positive mild cognitive impairment, n=14), 24 with FTD and 28 healthy controls underwent high-resolution 3T structural brain MRI. Using surface-based morphometry, we created vertex-wise cortical thickness and fractal dimension maps for group comparisons and correlations with cognitive measures in AD and FTD. In addition to the well-established pattern of cortical thinning encompassing temporoparietal regions in AD and frontotemporal areas in FTD (FDR p< 0.05), we observed reductions of fractal dimension specifically involving precuneus and posterior cingulate for AD and orbitofrontal cortex and insula for FTD. Correlational analyses between fractal dimension and cognition showed that these regions were particularly vulnerable with regards to memory and language impairment in both AD and FTD. This study demonstrates a distinct pattern of fractal dimension impairment and correlation with cognition. Further studies are required to assess cortical complexity measures at earlier disease stages (e.g. in prodromal/ asymptomatic carriers of FTD-related gene mutations) to assess whether fractal dimension represents a sensitive imaging marker for prevention and diagnostic strategies.

scholarly journals Peripheral Markers of Vascular Endothelial Dysfunction Show Independent but Additive Relationships with Brain-Based Biomarkers in Association with Functional Impairment in Alzheimer’s Disease

2021 ◽  
pp. 1-13
Author(s):  
Jonathan D. Drake ◽  
Alison B. Chambers ◽  
Brian R. Ott ◽  
Lori A. Daiello ◽  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cell Adhesion ◽  
Adhesion Molecule ◽  
Functional Impairment ◽  
Amyloid Β ◽  
Intercellular Adhesion Molecule ◽  
Csf Biomarkers ◽  
Linear Regression Models ◽  
Cognitively Normal

Background: Cerebrovascular dysfunction confers risk for functional decline in Alzheimer’s disease (AD), yet the clinical interplay of these two pathogenic processes is not well understood. Objective: We utilized Alzheimer’s Disease Neuroimaging Initiative (ADNI) data to examine associations between peripherally derived soluble cell adhesion molecules (CAMs) and clinical diagnostic indicators of AD. Methods: Using generalized linear regression models, we examined cross-sectional relationships of soluble plasma vascular cell adhesion molecule-1 (VCAM-1), intercellular adhesion molecule-1 (ICAM-1), and E-Selectin to baseline diagnosis and functional impairment (clinical dementia rating sum-of-boxes, CDR-SB) in the ADNI cohort (n = 112 AD, n = 396 mild cognitive impairment (MCI), n = 58 cognitively normal). We further analyzed associations of these biomarkers with brain-based AD biomarkers in a subset with available cerebrospinal fluid (CSF) data (n = 351). p-values derived from main effects and interaction terms from the linear regressions were used to assess the relationship between independent and dependent variables for significance (significance level was set at 0.05 a priori for all analysis). Results: Higher mean VCAM-1 (p = 0.0026) and ICAM-1 (p = 0.0189) levels were found in AD versus MCI groups; however, not in MCI versus cognitively normal groups. Only VCAM-1 was linked with CDR-SB scores (p = 0.0157), and APOE ɛ4 genotype modified this effect. We observed independent, additive associations when VCAM-1 and CSF amyloid-β (Aβ 42), total tau, phosphorylated tau (P-tau), or P-tau/Aβ 42 (all <  p = 0.01) were combined in a CDR-SB model; ICAM-1 showed a similar pattern, but to a lesser extent. Conclusion: Our findings indicate independent associations of plasma-based vascular biomarkers and CSF biomarkers with AD-related clinical impairment.

scholarly journals P2-298: Assessing the economic value of potential disease-modifying agents in Alzheimer's disease using simulation

2013 ◽  
Vol 9 ◽  
pp. P467-P467
Author(s):  
Denis Getsios ◽  
Shien Guo ◽  
Nikhil Revankar ◽  
Linus Jonsson ◽  
Peter Neumann ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Economic Value ◽  
Disease Modifying ◽  
Disease Modifying Agents

scholarly journals Longitudinal brain atrophy and CSF biomarkers in early-onset Alzheimer’s disease

2021 ◽  
pp. 102804
Author(s):  
José Contador ◽  
Agnès Pérez-Millán ◽  
Adrià Tort-Merino ◽  
Mircea Balasa ◽  
Neus Falgàs ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Brain Atrophy ◽  
Early Onset ◽  
Csf Biomarkers ◽  
Early Onset Alzheimer’S Disease

scholarly journals Case of early-onset Alzheimer’s disease with atypical manifestation

2021 ◽  
Vol 34 (1) ◽  
pp. e100283
Author(s):  
Lin Zhu ◽  
Limin Sun ◽  
Lin Sun ◽  
Shifu Xiao
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Clinical Manifestation ◽  
Early Onset ◽  
Short Term Memory ◽  
Brain Mri ◽  
Memory Loss ◽  
Amyloid Β ◽  
Amyloid Β Protein ◽  
Fluent Aphasia

Short-term memory decline is the typical clinical manifestation of Alzheimer’s disease (AD). However, early-onset AD usually has atypical symptoms and may get misdiagnosed. In the present case study, we reported a patient who experienced symptoms of memory loss with progressive non-fluent aphasia accompanied by gradual social withdrawal. He did not meet the diagnostic criteria of AD based on the clinical manifestation and brain MRI. However, his cerebrospinal fluid examination showed a decreased level of beta-amyloid 42, and increased total tau and phosphorylated tau. Massive amyloid β-protein deposition by 11C-Pittsburgh positron emission tomography confirmed the diagnosis of frontal variant AD. This case indicated that early-onset AD may have progressive non-fluent aphasia as the core manifestation. The combination of individual and precision diagnosis would be beneficial for similar cases.

scholarly journals Cerebrospinal Fluid Biomarkers of Alzheimer’s Disease: Current Evidence and Future Perspectives

2021 ◽  
Vol 11 (2) ◽  
pp. 215
Author(s):  
Donovan A. McGrowder ◽  
Fabian Miller ◽  
Kurt Vaz ◽  
Chukwuemeka Nwokocha ◽  
Cameil Wilson-Clarke ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Late Onset ◽  
Amyloid Β ◽  
Current Evidence ◽  
Csf Biomarkers ◽  
Diagnostic Efficacy ◽  
Neurofilament Light ◽  
New Biomarkers

Alzheimer’s disease is a progressive, clinically heterogeneous, and particularly complex neurodegenerative disease characterized by a decline in cognition. Over the last two decades, there has been significant growth in the investigation of cerebrospinal fluid (CSF) biomarkers for Alzheimer’s disease. This review presents current evidence from many clinical neurochemical studies, with findings that attest to the efficacy of existing core CSF biomarkers such as total tau, phosphorylated tau, and amyloid-β (Aβ42), which diagnose Alzheimer’s disease in the early and dementia stages of the disorder. The heterogeneity of the pathophysiology of the late-onset disease warrants the growth of the Alzheimer’s disease CSF biomarker toolbox; more biomarkers showing other aspects of the disease mechanism are needed. This review focuses on new biomarkers that track Alzheimer’s disease pathology, such as those that assess neuronal injury (VILIP-1 and neurofilament light), neuroinflammation (sTREM2, YKL-40, osteopontin, GFAP, progranulin, and MCP-1), synaptic dysfunction (SNAP-25 and GAP-43), vascular dysregulation (hFABP), as well as CSF α-synuclein levels and TDP-43 pathology. Some of these biomarkers are promising candidates as they are specific and predict future rates of cognitive decline. Findings from the combinations of subclasses of new Alzheimer’s disease biomarkers that improve their diagnostic efficacy in detecting associated pathological changes are also presented.

scholarly journals When Cognitive Decline and Depression Coexist in the Elderly: CSF Biomarkers Analysis Can Differentiate Alzheimer's Disease from Late-Life Depression

2018 ◽  
Vol 10 ◽  
Author(s):  
Claudio Liguori ◽  
Mariangela Pierantozzi ◽  
Agostino Chiaravalloti ◽  
Giulia M. Sancesario ◽  
Nicola B. Mercuri ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Decline ◽  
Late Life ◽  
The Elderly ◽  
Csf Biomarkers ◽  
Late Life Depression
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