scholarly journals Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion

2012 ◽  
Vol 4 (5) ◽  
pp. 42 ◽  
Author(s):  
Laura E Downey ◽  
Colin J Mahoney ◽  
Martin N Rossor ◽  
Sebastian J Crutch ◽  
Jason D Warren
Keyword(s):  
Frontotemporal Dementia ◽  
C9orf72 Expansion

scholarly journals [18 F]AV-1451 binding is increased in frontotemporal dementia due to C9orf72 expansion

2018 ◽  
Vol 5 (10) ◽  
pp. 1292-1296 ◽  
Author(s):  
Richard W. Bevan-Jones ◽  
Thomas E. Cope ◽  
Simon P. Jones ◽  
Luca Passamonti ◽  
Young T. Hong ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
C9orf72 Expansion

scholarly journals The neural correlates and clinical characteristics of psychosis in the frontotemporal dementia continuum and the C9orf72 expansion

2017 ◽  
Vol 13 ◽  
pp. 439-445 ◽  
Author(s):  
Emma M Devenney ◽  
Ramon Landin-Romero ◽  
Muireann Irish ◽  
Michael Hornberger ◽  
Eneida Mioshi ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Characteristics ◽  
Neural Correlates ◽  
C9orf72 Expansion

scholarly journals Differential Lipid Mediator Involvement in the Different Forms of Genetic Frontotemporal Dementia: Novel Insights into Neuroinflammation

2021 ◽  
pp. 1-7
Author(s):  
Aitana Sogorb-Esteve ◽  
Romain A. Colas ◽  
Jesmond Dalli ◽  
Jonathan D. Rohrer
Keyword(s):  
Frontotemporal Dementia ◽  
Docosapentaenoic Acid ◽  
Lipid Mediators ◽  
Lipid Mediator ◽  
C9orf72 Expansion ◽  
Chromatography Tandem Mass Spectrometry ◽  
Liquid Chromatography Tandem Mass ◽  
Mapt Mutation ◽  
Homeostatic State

Background: The pathophysiology of frontotemporal dementia (FTD) is poorly understood but recent studies implicate neuroinflammation as an important factor. However, little is known so far about the role of the resolution pathway, the response to inflammation that allows tissue to return to a homeostatic state. Objective: We aimed to measure the concentrations of lipid mediators including specialized proresolving mediators (SPMs) and proinflammatory eicosanoids in the cerebrospinal fluid (CSF) of people with FTD. Methods: 15 people with genetic FTD (5 with C9orf72 expansions, 5 with GRN mutations, and 5 with MAPT mutations) were recruited to the study along with 15 age- and sex-matched healthy controls. Targeted liquid chromatography-tandem mass spectrometry techniques were used to measure the CSF concentrations of lipid mediators in the docosahexaenoic acid (DHA), n-3 docosapentaenoic acid, eicosapentaenoic acid, and arachidonic acid (AA) metabolomes. Results: Only the C9orf72 expansion carriers had higher concentrations of SPMs (DHA-derived maresins and DHA-derived resolvins) compared with controls. In contrast, GRN and MAPT mutation carriers had normal concentrations of SPMs but significantly higher concentrations of the proinflammatory AA-derived leukotrienes and AA-derived thromboxane compared with controls. Additionally, the C9orf72 expansion carriers also had significantly higher concentrations of AA-derived leukotrienes. Conclusion: This initial pilot study of lipid mediators provides a window into a novel biological pathway not previously investigated in FTD, showing differential patterns of alterations between those with C9orf72 expansions (where SPMs are higher) and GRN and MAPT mutations (where only proinflammatory eicosanoids are higher).

Early Cerebellar Hypometabolism in Patients With Frontotemporal Dementia Carrying the C9orf72 Expansion

2015 ◽  
Vol 29 (4) ◽  
pp. 353-356 ◽  
Author(s):  
Marc Suárez-Calvet ◽  
Valle Camacho ◽  
Beatriz Gómez-Ansón ◽  
Sofia Antón ◽  
Yolanda Vives-Gilabert ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
C9orf72 Expansion

scholarly journals C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

2012 ◽  
Vol 27 (8) ◽  
pp. 1072-1074 ◽  
Author(s):  
Seán O'Dowd ◽  
Denis Curtin ◽  
Adrian J. Waite ◽  
Kinley Roberts ◽  
Niall Pender ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Frontotemporal Dementia ◽  
C9orf72 Expansion ◽  
Lateral Sclerosis

C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia

2018 ◽  
Vol 46 (3-4) ◽  
pp. 180-185
Author(s):  
Anthony Fourier ◽  
Maité Formaglio ◽  
Mathilde Sauvée ◽  
Armand Perret-Liaudet ◽  
Philippe Latour ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Immunosorbent Assay ◽  
Enzyme Linked Immunosorbent Assay ◽  
Causative Gene ◽  
Protein Determination ◽  
C9orf72 Expansion ◽  
New Evidence

Background/Aims: The aim of the study was to assess the theory of haploinsufficiency in C9ORF72 expansion carriers, the most frequent causative gene of frontotemporal dementia. Methods: Plasmatic concentrations of C9orf72 protein were measured in 33 patients suspected of familial frontotemporal dementia using an enzyme-linked immunosorbent assay. Results: No difference was observed between C9ORF72 expansion carriers (21.2% of patients) and noncarriers (78.8% of patients). C9orf72 protein determination is not a suitable biomarker for screening C9ORF72 expansion carriers. Conclusion: Our results provide new evidence against the hypothesis of haploinsufficiency leading to frontotemporal dementia in C9ORF72 expansion carriers.

scholarly journals Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Andrea López-Cáceres ◽  
María Velasco-Rueda ◽  
Elkin Garcia-Cifuentes ◽  
Ignacio Zarante ◽  
Diana Matallana
Keyword(s):  
Frontotemporal Dementia ◽  
Single Gene ◽  
Initial Report ◽  
C9orf72 Expansion ◽  
Clinical Phenotypes ◽  
Hereditary Risk ◽  
Familial Cases ◽  
Risk Criteria ◽  
Hexanucleotide Repeat ◽  
Repeat Expansions

Frontotemporal dementia (FTD) is a highly heritable condition. Up to 40% of FTD is familial and an estimated 15% to 40% is due to single-gene mutations. It has been estimated that the G4C2 hexanucleotide repeat expansions in the C9ORF72 gene can explain up to 37.5% of the familial cases of FTD, especially in populations of Caucasian origin. The purpose of this paper is to evaluate hereditary risk across the clinical phenotypes of FTD and the frequency of the G4C2 expansion in a Colombian cohort diagnosed with FTD.Methods: A total of 132 FTD patients were diagnosed according to established criteria in the behavioral variant FTD, logopenic variant PPA, non-fluent agrammatic PPA, and semantic variant PPA. Hereditary risk across the clinical phenotypes was established in four categories that indicate the pathogenic relationship of the mutation: high, medium, low, and apparently sporadic, based on those proposed by Wood and collaborators. All subjects were also examined for C9ORF72 hexanucleotide expansion (defined as >30 repetitions).Results: There were no significant differences in the demographic characteristics of the patients between the clinical phenotypes of FTD. The higher rate phenotype was bvFTD (62.12%). In accordance with the risk classification, we found that 72 (54.4%) complied with the criteria for the sporadic cases; for the familial cases, 23 (17.4%) fulfilled the high-risk criteria, 23 (17.4%) fulfilled the low risk criteria, and 14 (10.6%) fulfilled the criteria to be classified as subject to medium risk. C9ORF72 expansion frequency was 0.76% (1/132).Conclusion: The FTD heritability presented in this research was very similar to the results reported in the literature. The C9ORF72 expansion frequency was low. Colombia is a triethnic country, with a high frequency of genetic Amerindian markers; this shows consistency with the present results of a low repetition frequency. This study provides an initial report of the frequency for the hexanucleotide repeat expansions in C9ORF72 in patients with FTD in a Colombian population and paves the way for further study of the possible genetic causes of FTD in Colombia.

scholarly journals Automatic MRI Quantifying Methods in Behavioral-Variant Frontotemporal Dementia Diagnosis

2018 ◽  
Vol 8 (1) ◽  
pp. 51-59 ◽  
Author(s):  
Antti Cajanus ◽  
Anette Hall ◽  
Juha Koikkalainen ◽  
Eino Solje ◽  
Antti Tolonen ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Reference Group ◽  
Lewy Body Dementia ◽  
Differential Diagnostics ◽  
Subjective Memory ◽  
Behavioral Variant Frontotemporal Dementia ◽  
C9orf72 Expansion ◽  
Mri Scans ◽  
Reliable Differentiation

Aims: We assessed the value of automated MRI quantification methods in the differential diagnosis of behavioral-variant frontotemporal dementia (bvFTD) from Alzheimer disease (AD), Lewy body dementia (LBD), and subjective memory complaints (SMC). We also examined the role of the C9ORF72-related genetic status in the differentiation sensitivity. Methods: The MRI scans of 50 patients with bvFTD (17 C9ORF72 expansion carriers) were analyzed using 6 quantification methods as follows: voxel-based morphometry (VBM), tensor-based morphometry, volumetry (VOL), manifold learning, grading, and white-matter hyperintensities. Each patient was then individually compared to an independent reference group in order to attain diagnostic suggestions. Results: Only VBM and VOL showed utility in correctly identifying bvFTD from our set of data. The overall classification sensitivity of bvFTD with VOL + VBM achieved a total sensitivity of 60%. Using VOL + VBM, 32% were misclassified as having LBD. There was a trend of higher values for classification sensitivity of the C9ORF72 expansion carriers than noncarriers. Conclusion: VOL, VBM, and their combination are effective in differential diagnostics between bvFTD and AD or SMC. However, MRI atrophy profiles for bvFTD and LBD are too similar for a reliable differentiation with the quantification methods tested in this study.

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