E-resources
-
Rojas, Julio C; Wang, Ping; Staffaroni, Adam M; Heller, Carolin; Cobigo, Yann; Wolf, Amy; Goh, Sheng-Yang M; Ljubenkov, Peter A; Heuer, Hilary W; Fong, Jamie C; Taylor, Joanne B; Veras, Eliseo; Song, Linan; Jeromin, Andreas; Hanlon, David; Yu, Lili; Khinikar, Arvind; Sivasankaran, Rajeev; Kieloch, Agnieszka; Valentin, Marie-Anne; Karydas, Anna M; Mitic, Laura L; Pearlman, Rodney; Kornak, John; Kramer, Joel H; Miller, Bruce L; Kantarci, Kejal; Knopman, David S; Graff-Radford, Neill; Petrucelli, Leonard; Rademakers, Rosa; Irwin, David J; Grossman, Murray; Ramos, Eliana Marisa; Coppola, Giovanni; Mendez, Mario F; Bordelon, Yvette; Dickerson, Bradford C; Ghoshal, Nupur; Huey, Edward D; Mackenzie, Ian R; Appleby, Brian S; Domoto-Reilly, Kimiko; Hsiung, Ging-Yuek R; Toga, Arthur W; Weintraub, Sandra; Kaufer, Daniel I; Kerwin, Diana; Litvan, Irene; Onyike, Chiadikaobi U; Pantelyat, Alexander; Roberson, Erik D; Tartaglia, Maria C; Foroud, Tatiana; Chen, Weiping; Czerkowicz, Julie; Graham, Danielle L; van Swieten, John C; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B; Masellis, Mario; Finger, Elizabeth; Vandenberghe, Rik; de Mendonça, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Sorbi, Sandro; Cash, David M; Convery, Rhian S; Bocchetta, Martina; Foiani, Martha; Greaves, Caroline V; Peakman, Georgia; Russell, Lucy; Swift, Imogen; Todd, Emily; Rohrer, Jonathan D; Boeve, Bradley F; Rosen, Howard J; Boxer, Adam L
Neurology, 05/2021, Volume: 96, Issue: 18Journal Article
We tested the hypothesis that plasma neurofilament light chain (NfL) identifies asymptomatic carriers of familial frontotemporal lobar degeneration (FTLD)-causing mutations at risk of disease progression. Baseline plasma NfL concentrations were measured with single-molecule array in original (n = 277) and validation (n = 297) cohorts. , , and mutation carriers and noncarriers from the same families were classified by disease severity (asymptomatic, prodromal, and full phenotype) using the CDR Dementia Staging Instrument plus behavior and language domains from the National Alzheimer's Disease Coordinating Center FTLD module (CDR+NACC-FTLD). Linear mixed-effect models related NfL to clinical variables. In both cohorts, baseline NfL was higher in asymptomatic mutation carriers who showed phenoconversion or disease progression compared to nonprogressors (original: 11.4 ± 7 pg/mL vs 6.7 ± 5 pg/mL, = 0.002; validation: 14.1 ± 12 pg/mL vs 8.7 ± 6 pg/mL, = 0.035). Plasma NfL discriminated symptomatic from asymptomatic mutation carriers or those with prodromal disease (original cutoff: 13.6 pg/mL, 87.5% sensitivity, 82.7% specificity; validation cutoff: 19.8 pg/mL, 87.4% sensitivity, 84.3% specificity). Higher baseline NfL correlated with worse longitudinal CDR+NACC-FTLD sum of boxes scores, neuropsychological function, and atrophy, regardless of genotype or disease severity, including asymptomatic mutation carriers. Plasma NfL identifies asymptomatic carriers of FTLD-causing mutations at short-term risk of disease progression and is a potential tool to select participants for prevention clinical trials. ClinicalTrials.gov Identifier: NCT02372773 and NCT02365922. This study provides Class I evidence that in carriers of FTLD-causing mutations, elevation of plasma NfL predicts short-term risk of clinical progression.
Author
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.