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Comparison of clini...
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort
- Article/chapterEnglish2022
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:148249261
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http://kipublications.ki.se/Default.aspx?queryparsed=id:148249261URI
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https://doi.org/10.1136/jnnp-2021-326868DOI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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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.
Added entries (persons, corporate bodies, meetings, titles ...)
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Russell, LL
(author)
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Convery, RS
(author)
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Nicholas, JM
(author)
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Van Swieten, JC
(author)
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Jiskoot, LC
(author)
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Moreno, F
(author)
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Sanchez-Valle, R
(author)
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Laforce, R
(author)
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Graff, CKarolinska Institutet
(author)
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Masellis, M
(author)
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Tartaglia, MC
(author)
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Rowe, JB
(author)
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Borroni, B
(author)
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Finger, E
(author)
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Synofzik, M
(author)
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Galimberti, D
(author)
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Vandenberghe, R
(author)
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de Mendonca, A
(author)
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Butler, CR
(author)
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Gerhard, A
(author)
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Ducharme, S
(author)
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Le Ber, I
(author)
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Tagliavini, F
(author)
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Santana, I
(author)
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Pasquier, F
(author)
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Levin, J
(author)
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Danek, A
(author)
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Otto, M
(author)
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Sorbi, S
(author)
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Rohrer, JD
(author)
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Karolinska Institutet
(creator_code:org_t)
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In:Journal of neurology, neurosurgery, and psychiatry: BMJ93:2, s. 158-1681468-330X0022-3050
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Peakman, G
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Russell, LL
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Convery, RS
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Nicholas, JM
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Van Swieten, JC
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Jiskoot, LC
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show more...
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Moreno, F
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Sanchez-Valle, R
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Laforce, R
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Graff, C
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Masellis, M
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Tartaglia, MC
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Rowe, JB
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Borroni, B
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Finger, E
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Synofzik, M
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Galimberti, D
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Vandenberghe, R
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de Mendonca, A
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Butler, CR
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Gerhard, A
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Ducharme, S
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Le Ber, I
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Tagliavini, F
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Santana, I
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Pasquier, F
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Levin, J
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Danek, A
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Otto, M
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Sorbi, S
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Rohrer, JD
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Karolinska Institutet