Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Patients with Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis with the C9ORF72 Repeat Expansion

2015 ◽  
Vol 39 (5-6) ◽  
pp. 287-293 ◽  
Author(s):  
Anna Kämäläinen ◽  
Sanna-Kaisa Herukka ◽  
Päivi Hartikainen ◽  
Seppo Helisalmi ◽  
Virpi Moilanen ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Frontotemporal Lobar Degeneration ◽  
Clinical Signs ◽  
Clinical Diagnostics ◽  
C9orf72 Expansion ◽  
T Tau ◽  
Lateral Sclerosis

Background: The C9ORF72 expansion is one of the most common causes of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The C9ORF72 expansion is associated with TDP-43 and p62 neuropathology, and amyloid plaques and neurofibrillary tangles are not common in patients with the C9ORF72 expansion. Therefore, we hypothesized that cerebrospinal fluid (CSF) biomarkers for Alzheimer's disease [AD; Aβ1-42, total tau (T-tau) and phospho-tau] are normal in these patients. Methods: The CSF Aβ1-42, T-tau and phospho-tau levels were measured in 40 Finnish patients with the C9ORF72 expansion (29 FTLD, 10 ALS and 1 FTLD-ALS) using ELISA. Results: A decreased Aβ1-42 level was found in 25% of cases, while there were only single cases with changes in the t-Tau or phospho-tau level. The patients with abnormal biomarkers fulfilled the clinical criteria of the behavioral variant frontotemporal dementia and expressed no clinical signs of AD. Conclusions: In clinical diagnostics, a decreased CSF Aβ1-42 level does not exclude the C9ORF72 expansion associated with FTLD.

scholarly journals Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion

2016 ◽  
Vol 6 (1) ◽  
pp. 142-149 ◽  
Author(s):  
Anna Junttila ◽  
Mari Kuvaja ◽  
Päivi Hartikainen ◽  
Maritta Siloaho ◽  
Seppo Helisalmi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Frontotemporal Lobar Degeneration ◽  
Rapid Progression ◽  
Carrier Status ◽  
C9orf72 Expansion ◽  
Main Protein ◽  
Als Patients ◽  
T Tau ◽  
Lateral Sclerosis

Background: TDP-43 is the main protein component of ubiquitinated inclusions in a subgroup of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) patients. The C9ORF72 hexanucleotide expansion is one of the main mutations associated with TDP-43 pathology in FTLD and ALS. Our aim was to analyze cerebrospinal fluid (CSF) TDP-43 levels and Alzheimer's disease biomarkers in FTLD and ALS patients and to test whether the C9ORF72 expansion carrier status affects these variables. Methods: The patient cohort consisted of 90 clinically well-characterized FTLD (n = 69) and ALS (n = 21) patients. There were 30 patients with the C9ORF72 expansion and 60 patients without the expansion. CSF TDP-43, Aβ1-42, t-tau, and phospho-tau levels were measured using commercial ELISA kits. Results: There was no difference in CSF TDP-43 levels between the C9ORF72 expansion carriers and the noncarriers. CSF TDP-43 levels were higher in ALS patients than in FTLD patients, and this finding was independent of the C9ORF72 expansion carrier status. Males had significantly higher TDP-43 levels than females (p = 0.008 in the total cohort). Conclusion: CSF TDP-43 does not seem to distinguish the C9ORF72 expansion carriers from noncarriers. However, higher CSF TDP-43 levels were detected in ALS than in FTLD, which might be an indicator of a more rapid progression of TDP-43 pathology in ALS.

scholarly journals Cerebrospinal Fluid Biomarkers for Kii Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Yui Nakayama ◽  
Satoru Morimoto ◽  
Misao Yoneda ◽  
Shigeki Kuzuhara ◽  
Yasumasa Kokubo
Keyword(s):  
Alzheimer’S Disease ◽  
Parkinson’S Disease ◽  
Alzheimer's Disease ◽  
Parkinson's Disease ◽  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Enzyme Linked Immunosorbent Assay ◽  
Phosphorylated Tau ◽  
Total Tau ◽  
Lateral Sclerosis

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 (), Alzheimer’s disease (), Parkinson’s disease (), amyotrophic lateral sclerosis (), and controls () 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.

The comparisons of blood plasma and cerebrospinal fluid S100B protein concentrations in patients with Alzheimer`s disease, amyotrophic lateral sclerosis, and multiple sclerosis

2019 ◽  
Vol 1 ◽  
pp. 22-27
Author(s):  
J. Tarasiuk ◽  
K. Kapica-Topczewska ◽  
M. Chorąży ◽  
A. Borowik-Zaręba ◽  
B. Mroczko ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Central Nervous System ◽  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Blood Plasma ◽  
Reference Group ◽  
Central Nervous System Disorders ◽  
Lateral Sclerosis

<b>Introduction:</b>S100 calcium-binding protein B (S100B) is a biochemical marker of astroglial damage. <br/><b>Purpose:</b> To assess the pathophysiological implications of S100B concentrations in blood plasma and cerebrospinal fluid of patients with neurodegenerative central nervous system disorders. <br/><b>Materials and Methods:</b> In this study, we determined and compare S100B concentrations in blood plasma and cerebrospinal fluid obtained from subjects diagnosed with Alzheimer's disease (n=20), amyotrophic lateral sclerosis (n=12), multiple sclerosis (n=40) and the reference group (n=20), using enzyme-linked immunosorbent assay. <br/><b>Results:</b> Concentrations of S100B in plasma collected from patients diagnosed with Alzheimer's disease (252,38±183,50 pg/mL) and multiple sclerosis (164,92±250,14 pg/mL) were above laboratory standards, but in patients with amyotrophic lateral sclerosis (53,96±56,92 pg/mL) and the reference group (2,12 pg/mL) were below laboratory norms (N>75 pg/mL). Concentrations of S100B in plasma collected from patients with Alzheimer's disease (252,38±183,50 pg/mL) were significantly higher than in patients with amyotrophic lateral sclerosis (53,96±56,92 pg/mL) (p<0,029). Concentrations of S100B in CSF collected from the reference group (546,96±236,62 pg/mL) and from patients with Alzheimer's disease (587,53±189,57 pg/mL), amyotrophic lateral sclerosis (404,41±179,56 pg/mL), multiple sclerosis (462,03±146,01 pg/mL) were very similar, and none of pairwise comparisons reached statistical significance. <br/><b>Conclusions:</b> Results of our studies indicate the importance of S100B protein concentration assessment in blood in central nervous system disorders differential diagnostics.

Association of Amyotrophic Lateral Sclerosis and Alzheimer’s Disease: New Entity or Coincidence? A Case Series

2021 ◽  
pp. 1-8
Author(s):  
Agathe Vrillon ◽  
Vincent Deramecourt ◽  
Florence Pasquier ◽  
Éloi Magnin ◽  
David Wallon ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Memory Impairment ◽  
Case Series ◽  
Cognitive Deterioration ◽  
Clinical Genetic ◽  
Cerebrospinal Fluid Biomarkers ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia have a strong clinical, genetic, and pathological connection but association of ALS with Alzheimer’s disease (AD) is seldom reported. We report a series of 5 cases of AD associated with ALS. Our patients presented with cognitive deterioration with episodic memory impairment meeting criteria for AD. ALS occurred subsequently in all cases and its phenotype was not homogenous. Amyloid process was confirmed in four cases with cerebrospinal fluid biomarkers. One case underwent postmortem exam, demonstrating hallmarks lesions of both diseases. This series highlights that ALS-AD phenotype could be a specific underexplored entity.

scholarly journals Novel Insights on Systemic and Brain Aging, Stroke, Amyotrophic Lateral Sclerosis, and Alzheimer’s Disease

2019 ◽  
Vol 10 (2) ◽  
pp. 470 ◽  
Author(s):  
Ashok K. Shetty ◽  
Raghavendra Upadhya ◽  
Leelavathi N. Madhu ◽  
Maheedhar Kodali
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Amyotrophic Lateral Sclerosis ◽  
Brain Aging ◽  
Lateral Sclerosis
Sign in / Sign up

Export Citation Format

Share Document