Sökning: WFRF:(Ducharme F) > (2020-2024) > Comparison of clini...
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000 | 04997naa a2200625 4500 | |
001 | oai:prod.swepub.kib.ki.se:148249261 | |
003 | SwePub | |
008 | 240701s2022 | |||||||||||000 ||eng| | |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1482492612 URI |
024 | 7 | a https://doi.org/10.1136/jnnp-2021-3268682 DOI |
040 | a (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Peakman, G4 aut |
245 | 1 0 | a Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort |
264 | c 2021-08-05 | |
264 | 1 | b BMJ,c 2022 |
520 | a Therapeutic trials are now underway in genetic forms of frontotemporal dementia (FTD) but clinical outcome measures are limited. The two most commonly used measures, the Clinical Dementia Rating (CDR)+National Alzheimer’s Disease Coordinating Center (NACC) Frontotemporal Lobar Degeneration (FTLD) and the FTD Rating Scale (FRS), have yet to be compared in detail in the genetic forms of FTD.MethodsThe CDR+NACC FTLD and FRS were assessed cross-sectionally in 725 consecutively recruited participants from the Genetic FTD Initiative: 457 mutation carriers (77 microtubule-associated protein tau (MAPT), 187 GRN, 193 C9orf72) and 268 family members without mutations (non-carrier control group). 231 mutation carriers (51 MAPT, 92 GRN, 88 C9orf72) and 145 non-carriers had available longitudinal data at a follow-up time point.ResultsCross-sectionally, the mean FRS score was lower in all genetic groups compared with controls: GRN mutation carriers mean 83.4 (SD 27.0), MAPT mutation carriers 78.2 (28.8), C9orf72 mutation carriers 71.0 (34.0), controls 96.2 (7.7), p<0.001 for all comparisons, while the mean CDR+NACC FTLD Sum of Boxes was significantly higher in all genetic groups: GRN mutation carriers mean 2.6 (5.2), MAPT mutation carriers 3.2 (5.6), C9orf72 mutation carriers 4.2 (6.2), controls 0.2 (0.6), p<0.001 for all comparisons. Mean FRS score decreased and CDR+NACC FTLD Sum of Boxes increased with increasing disease severity within each individual genetic group. FRS and CDR+NACC FTLD Sum of Boxes scores were strongly negatively correlated across all mutation carriers (rs=−0.77, p<0.001) and within each genetic group (rs=−0.67 to −0.81, p<0.001 in each group). Nonetheless, discrepancies in disease staging were seen between the scales, and with each scale and clinician-judged symptomatic status. Longitudinally, annualised change in both FRS and CDR+NACC FTLD Sum of Boxes scores initially increased with disease severity level before decreasing in those with the most severe disease: controls −0.1 (6.0) for FRS, −0.1 (0.4) for CDR+NACC FTLD Sum of Boxes, asymptomatic mutation carriers −0.5 (8.2), 0.2 (0.9), prodromal disease −2.3 (9.9), 0.6 (2.7), mild disease −10.2 (18.6), 3.0 (4.1), moderate disease −9.6 (16.6), 4.4 (4.0), severe disease −2.7 (8.3), 1.7 (3.3). Sample sizes were calculated for a trial of prodromal mutation carriers: over 180 participants per arm would be needed to detect a moderate sized effect (30%) for both outcome measures, with sample sizes lower for the FRS.ConclusionsBoth the FRS and CDR+NACC FTLD measure disease severity in genetic FTD mutation carriers throughout the timeline of their disease, although the FRS may be preferable as an outcome measure. However, neither address a number of key symptoms in the FTD spectrum, for example, motor and neuropsychiatric deficits, which future scales will need to incorporate. | |
700 | 1 | a Russell, LL4 aut |
700 | 1 | a Convery, RS4 aut |
700 | 1 | a Nicholas, JM4 aut |
700 | 1 | a Van Swieten, JC4 aut |
700 | 1 | a Jiskoot, LC4 aut |
700 | 1 | a Moreno, F4 aut |
700 | 1 | a Sanchez-Valle, R4 aut |
700 | 1 | a Laforce, R4 aut |
700 | 1 | a Graff, Cu Karolinska Institutet4 aut |
700 | 1 | a Masellis, M4 aut |
700 | 1 | a Tartaglia, MC4 aut |
700 | 1 | a Rowe, JB4 aut |
700 | 1 | a Borroni, B4 aut |
700 | 1 | a Finger, E4 aut |
700 | 1 | a Synofzik, M4 aut |
700 | 1 | a Galimberti, D4 aut |
700 | 1 | a Vandenberghe, R4 aut |
700 | 1 | a de Mendonca, A4 aut |
700 | 1 | a Butler, CR4 aut |
700 | 1 | a Gerhard, A4 aut |
700 | 1 | a Ducharme, S4 aut |
700 | 1 | a Le Ber, I4 aut |
700 | 1 | a Tagliavini, F4 aut |
700 | 1 | a Santana, I4 aut |
700 | 1 | a Pasquier, F4 aut |
700 | 1 | a Levin, J4 aut |
700 | 1 | a Danek, A4 aut |
700 | 1 | a Otto, M4 aut |
700 | 1 | a Sorbi, S4 aut |
700 | 1 | a Rohrer, JD4 aut |
710 | 2 | a Karolinska Institutet4 org |
773 | 0 | t Journal of neurology, neurosurgery, and psychiatryd : BMJg 93:2, s. 158-168q 93:2<158-168x 1468-330Xx 0022-3050 |
856 | 4 | u https://jnnp.bmj.com/content/jnnp/early/2021/08/04/jnnp-2021-326868.full.pdf |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:148249261 |
856 | 4 8 | u https://doi.org/10.1136/jnnp-2021-326868 |
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