FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2773789615> ?p ?o ?g. }

• W2773789615 endingPage "236" @default.
• W2773789615 startingPage "236" @default.
• W2773789615 abstract "Presymptomatic carriers of chromosome 9 open reading frame 72 (C9orf72) mutation, the most frequent genetic cause of frontotemporal lobar degeneration and amyotrophic lateral sclerosis, represent the optimal target population for the development of disease-modifying drugs. Preclinical biomarkers are needed to monitor the effect of therapeutic interventions in this population.To assess the occurrence of cognitive, structural, and microstructural changes in presymptomatic C9orf72 carriers.The PREV-DEMALS study is a prospective, multicenter, observational study of first-degree relatives of individuals carrying the C9orf72 mutation. Eighty-four participants entered the study between October 2015 and April 2017; 80 (95%) were included in cross-sectional analyses of baseline data. All participants underwent neuropsychological testing and magnetic resonance imaging; 63 (79%) underwent diffusion tensor magnetic resonance imaging. Gray matter volumes and diffusion tensor imaging metrics were calculated within regions of interest. Anatomical and microstructural differences between individuals who carried the C9orf72 mutation (C9+) and those who did not carry the C9orf72 mutation (C9-) were assessed using linear mixed-effects models. Data were analyzed from October 2015 to April 2017.Differences in neuropsychological scores, gray matter volume, and white matter integrity between C9+ and C9- individuals.Of the 80 included participants, there were 41 C9+ individuals (24 [59%] female; mean [SD] age, 39.8 [11.1] years) and 39 C9- individuals (24 [62%] female; mean [SD] age, 45.2 [13.9] years). Compared with C9- individuals, C9+ individuals had lower mean (SD) praxis scores (163.4 [6.1] vs 165.3 [5.9]; P = .01) and intransitive gesture scores (34.9 [1.6] vs 35.7 [1.5]; P = .004), atrophy in 8 cortical regions of interest and in the right thalamus, and white matter alterations in 8 tracts. When restricting the analyses to participants younger than 40 years, compared with C9- individuals, C9+ individuals had lower praxis scores and intransitive gesture scores, atrophy in 4 cortical regions of interest and in the right thalamus, and white matter alterations in 2 tracts.Cognitive, structural, and microstructural alterations are detectable in young C9+ individuals. Early and subtle praxis alterations, underpinned by focal atrophy of the left supramarginal gyrus, may represent an early and nonevolving phenotype related to neurodevelopmental effects of C9orf72 mutation. White matter alterations reflect the future phenotype of frontotemporal lobar degeneration/amyotrophic lateral sclerosis, while atrophy appears more diffuse. Our results contribute to a better understanding of the preclinical phase of C9orf72 disease and of the respective contribution of magnetic resonance biomarkers.clinicaltrials.gov Identifier: NCT02590276." @default.
• W2773789615 created "2017-12-22" @default.
• W2773789615 creator A5005778444 @default.
• W2773789615 creator A5020658050 @default.
• W2773789615 creator A5027489586 @default.
• W2773789615 creator A5035338217 @default.
• W2773789615 creator A5042403791 @default.
• W2773789615 creator A5042446611 @default.
• W2773789615 creator A5042566383 @default.
• W2773789615 creator A5044646422 @default.
• W2773789615 creator A5054788080 @default.
• W2773789615 creator A5055524428 @default.
• W2773789615 creator A5057016612 @default.
• W2773789615 creator A5064360632 @default.
• W2773789615 creator A5073134184 @default.
• W2773789615 creator A5075804608 @default.
• W2773789615 creator A5075986434 @default.
• W2773789615 creator A5077897163 @default.
• W2773789615 creator A5078304440 @default.
• W2773789615 creator A5078737983 @default.
• W2773789615 creator A5080254367 @default.
• W2773789615 creator A5083101187 @default.
• W2773789615 creator A5084369967 @default.
• W2773789615 date "2018-02-01" @default.
• W2773789615 modified "2023-10-18" @default.
• W2773789615 title "Early Cognitive, Structural, and Microstructural Changes in Presymptomatic <i>C9orf72</i> Carriers Younger Than 40 Years" @default.
• W2773789615 cites W1673222863 @default.
• W2773789615 cites W1833846911 @default.
• W2773789615 cites W1893585873 @default.
• W2773789615 cites W1965894642 @default.
• W2773789615 cites W1970578687 @default.
• W2773789615 cites W1970928383 @default.
• W2773789615 cites W1974274520 @default.
• W2773789615 cites W1995714006 @default.
• W2773789615 cites W2035093859 @default.
• W2773789615 cites W2042825905 @default.
• W2773789615 cites W2043533588 @default.
• W2773789615 cites W2053288220 @default.
• W2773789615 cites W2061082127 @default.
• W2773789615 cites W2071472234 @default.
• W2773789615 cites W2095798723 @default.
• W2773789615 cites W2098055496 @default.
• W2773789615 cites W2106786486 @default.
• W2773789615 cites W2114872355 @default.
• W2773789615 cites W2121553631 @default.
• W2773789615 cites W2123085033 @default.
• W2773789615 cites W212537071 @default.
• W2773789615 cites W2138004525 @default.
• W2773789615 cites W2146088791 @default.
• W2773789615 cites W2150523249 @default.
• W2773789615 cites W2152018727 @default.
• W2773789615 cites W2154945114 @default.
• W2773789615 cites W2160925726 @default.
• W2773789615 cites W2161686430 @default.
• W2773789615 cites W2164611804 @default.
• W2773789615 cites W2165254352 @default.
• W2773789615 cites W2168844688 @default.
• W2773789615 cites W2171250577 @default.
• W2773789615 cites W2310601159 @default.
• W2773789615 cites W2338545563 @default.
• W2773789615 cites W2340456055 @default.
• W2773789615 cites W2534857558 @default.
• W2773789615 cites W2535439450 @default.
• W2773789615 cites W2560149596 @default.
• W2773789615 cites W2587825246 @default.
• W2773789615 cites W2609455324 @default.
• W2773789615 cites W2624597159 @default.
• W2773789615 cites W2624766892 @default.
• W2773789615 cites W4247638931 @default.
• W2773789615 cites W4248172030 @default.
• W2773789615 doi "https://doi.org/10.1001/jamaneurol.2017.4266" @default.
• W2773789615 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5838615" @default.
• W2773789615 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29197216" @default.
• W2773789615 hasPublicationYear "2018" @default.
• W2773789615 type Work @default.
• W2773789615 sameAs 2773789615 @default.
• W2773789615 citedByCount "99" @default.
• W2773789615 countsByYear W27737896152018 @default.
• W2773789615 countsByYear W27737896152019 @default.
• W2773789615 countsByYear W27737896152020 @default.
• W2773789615 countsByYear W27737896152021 @default.
• W2773789615 countsByYear W27737896152022 @default.
• W2773789615 countsByYear W27737896152023 @default.
• W2773789615 crossrefType "journal-article" @default.
• W2773789615 hasAuthorship W2773789615A5005778444 @default.
• W2773789615 hasAuthorship W2773789615A5020658050 @default.
• W2773789615 hasAuthorship W2773789615A5027489586 @default.
• W2773789615 hasAuthorship W2773789615A5035338217 @default.
• W2773789615 hasAuthorship W2773789615A5042403791 @default.
• W2773789615 hasAuthorship W2773789615A5042446611 @default.
• W2773789615 hasAuthorship W2773789615A5042566383 @default.
• W2773789615 hasAuthorship W2773789615A5044646422 @default.
• W2773789615 hasAuthorship W2773789615A5054788080 @default.
• W2773789615 hasAuthorship W2773789615A5055524428 @default.
• W2773789615 hasAuthorship W2773789615A5057016612 @default.
• W2773789615 hasAuthorship W2773789615A5064360632 @default.
• W2773789615 hasAuthorship W2773789615A5073134184 @default.
• W2773789615 hasAuthorship W2773789615A5075804608 @default.

• next