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Title: Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
Authors: Samra, K
Macdougall, A
Peakman, G
Bouzigues, A
Bocchetta, M
Cash, DM
Greaves, CV
Convery, RS
van Swieten, JC
Jiskoot, LC
Seelaar, H
Moreno, F
Sánchez-Valle, R
Laforce, R
Graff, C
Masellis, M
Tartaglia, MC
Rowe, JB
Borroni, B
Finger, E
Synofzik, M
Galimberti, D
Vandenberghe, R
de Mendonca, A
Butler, CR
Gerhard, A
Ducharme, S
Le Ber, I
Tiraboschi, P
Santana, I
Pasquier, F
Levin, J
Otto, M
Sorbi, S
Rohrer, JD
Russell, LL
Issue Date: 10-Jan-2023
Publisher: BMJ Publishing Group
Citation: Samra, K. et al. on behalf of the Genetic FTD Initiative (GENFI) (2023) 'Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales', Journal of Neurology, Neurosurgery & Psychiatry, 0 (ahead of print), pp. 1 - 12. doi: 10.1136/jnnp-2022-330152.
Abstract: Copyright © Author(s) (or their employer(s)) 2023. Background: Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage. Methods: 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neuropsychiatric symptoms: visual, auditory, and tactile hallucinations, delusions, depression, anxiety, irritability/lability, agitation/aggression, euphoria/elation, aberrant motor behaviour, hypersexuality, hyperreligiosity, impaired sleep, and altered sense of humour. A principal component analysis (PCA) was performed to identify key groupings of neuropsychiatric and behavioural items in order to create a new neuropsychiatric module that could be used as an addition to the Clinical Dementia Rating (CDR) plus National Alzheimer’s Coordinating Center Behaviour and Language Domains (NACC FTLD) rating scale. Results: Overall, 46.4% of mutation carriers had neuropsychiatric symptoms (51.6% C9orf72, 40.8% GRN, 46.6% MAPT) compared with 24.5% of controls. Anxiety and depression were the most common in all genetic groups but fluctuated longitudinally and loaded separately in the PCA. Hallucinations and delusions loaded together, with the remaining neuropsychiatric symptoms loading with the core behavioural features of FTD. These results suggest using a single ‘psychosis’ neuropsychiatric module consisting of hallucinations and delusions. Adding this to the CDR plus NACC FTLD, called the CDR plus NACC FTLD-N, leads to a number of participants being scored more severely, including those who were previously considered asymptomatic now being scored as prodromal. Conclusions: Neuropsychiatric symptoms occur in mutation carriers at all disease stages across all three genetic groups. However, only psychosis features provided additional staging benefit to the CDR plus NACC FTLD. Inclusion of these features brings us closer to optimising the rating scale for use in trials.
Description: Data availability statement: Data are available on reasonable request. Some data are available on reasonable request after review by the GENFI Data Access Committee. Email is
Supplementary Data: This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content. Data supplement 1 available online at .
ISSN: 0022-3050
Other Identifiers: ORCID iD: Kiran Samra; Georgia Peakman; Martina Bocchetta; Rhian S Convery; John C van Swieten; Lize C Jiskoot Harro Seelaar; James B Rowe; Barbara Borroni; Elizabeth Finger; Matthis Synofzik; Daniela Galimberti; Alexander Gerhard; Simon Ducharme; Isabelle Le Ber; Pietro Tiraboschi; Sandro Sorbi; Jonathan D Rohrer
Appears in Collections:Dept of Life Sciences Research Papers

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