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  • Wiley  (12)
  • Seelaar, Harro  (12)
  • 1
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    Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia
    Wiley ; 2023
    In:  Alzheimer's & Dementia Vol. 19, No. 5 ( 2023-05), p. 1947-1962
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    In: Alzheimer's & Dementia, Wiley, Vol. 19, No. 5 ( 2023-05), p. 1947-1962
    Abstract: We tested whether changes in functional networks predict cognitive decline and conversion from the presymptomatic prodrome to symptomatic disease in familial frontotemporal dementia (FTD). Methods For hypothesis generation, 36 participants with behavioral variant FTD (bvFTD) and 34 controls were recruited from one site. For hypothesis testing, we studied 198 symptomatic FTD mutation carriers, 341 presymptomatic mutation carriers, and 329 family members without mutations. We compared functional network dynamics between groups, with clinical severity and with longitudinal clinical progression. Results We identified a characteristic pattern of dynamic network changes in FTD, which correlated with neuropsychological impairment. Among presymptomatic mutation carriers, this pattern of network dynamics was found to a greater extent in those who subsequently converted to the symptomatic phase. Baseline network dynamic changes predicted future cognitive decline in symptomatic participants and older presymptomatic participants. Discussion Dynamic network abnormalities in FTD predict cognitive decline and symptomatic conversion. Highlights We investigated brain network predictors of dementia symptom onset Frontotemporal dementia results in characteristic dynamic network patterns Alterations in network dynamics are associated with neuropsychological impairment Network dynamic changes predict symptomatic conversion in presymptomatic carriers Network dynamic changes are associated with longitudinal cognitive decline
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v19.5
    DOI: 10.1002/alz.12824
    Language: English
    Publisher: Wiley
    Publication Date: 2023
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  • 2
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    Differential synaptic marker involvement in the different genetic forms of frontotemporal dementia
    Wiley ; 2021
    In:  Alzheimer's & Dementia Vol. 17, No. S5 ( 2021-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 17, No. S5 ( 2021-12)
    Abstract: Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for the majority of the inheritance: C9orf72, GRN and MAPT . Synaptic dysfunction is a common mechanism in all of them and the use of fluid biomarkers could be helpful to improve the diagnostic accuracy and useful as a readout of cellular dysfunction within therapeutic trials. Method A total of 193 cerebrospinal fluid samples from the GENetic FTD Initiative including 77 presymptomatic (31 C9orf72 , 23 GRN , 23 MAPT ), 55 symptomatic mutation carriers (26 C9orf72 , 17 GRN , 12 MAPT ) and 61 mutation‐negative controls were measured using a microflow LC PRM‐MS set‐up targeting 15 synaptic proteins: 14‐3‐3 proteins (eta, zeta/delta and epsilon), AP‐2 complex subunit beta, beta‐synuclein, gamma‐synuclein, complexin‐2, neurogranin, neuronal pentraxin receptor (NPTXR), neuronal pentraxin 1 (NPTX1), neuronal pentraxin 2 (NPTX2), phosphatidylethanolamine‐binding protein 1 (PEBP‐1), rab GDP dissociation inhibitor α (rab GDIα), syntaxin‐1B and syntaxin‐7. Mutation carrier groups were compared to each other and to controls using a bootstrapped linear regression model, adjusting for age and sex. Result Eight proteins were increased only in symptomatic MAPT mutation carriers (compared with controls) and not in symptomatic C9orf72 or GRN mutation carriers: 14‐3‐3‐eta, beta‐synuclein, gamma‐synuclein, neurogranin, PEBP‐1, rab GDIα, syntaxin‐1B and syntaxin‐7. In contrast, NPTX1 and NPTX2 were affected in all three genetic groups (decreased compared to controls), with NPTXR being affected in C9orf72 and GRN mutation carriers only (decreased compared to controls). No changes were seen in presymptomatic mutation carriers in these proteins. Figure 1 contains p‐values for all significant changes. Conclusion Differential involvement of synaptic markers is seen in the genetic forms of FTD, with impairment particularly in those with MAPT mutations, with only the neuronal pentraxins affected in GRN and C9orf72 mutation carriers. Further work is needed to explore correlations with clinical and imaging biomarkers, whether there are changes in the late presymptomatic period, and how these markers change over time.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v17.S5
    DOI: 10.1002/alz.054934
    Language: English
    Publisher: Wiley
    Publication Date: 2021
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  • 3
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    From brain volumes to subgroup classification in genetic mutation carriers for frontotemporal dementia: A cluster analysis in the GENFI study
    Wiley ; 2021
    In:  Alzheimer's & Dementia Vol. 17, No. S5 ( 2021-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 17, No. S5 ( 2021-12)
    Abstract: Genetic frontotemporal dementia (FTD) is highly heterogeneous, with carriers of mutations in the same gene manifesting different phenotypes. Using in vivo MR images from the Genetic FTD Initiative (GENFI), we aimed to identify subgroups within the same genetic group whose brains were affected differently. Method Cortical and subcortical volumes of interest were generated using automated parcellation methods on volumetric 3T T1‐weighted MRI scans for 479 carriers (198 GRN , 202 C9orf72 , and 79 MAPT mutation carriers). W‐scores for 85 volumes of interest were computed from a linear regression model carried out on 298 non‐carrier cognitively normal controls adjusting for the effect of age, sex, total intracranial volume and scanner type. Cluster analyses with the Ward agglomerating method were performed on all w‐scores while considering the three genetic groups independently. The identified clusters were then compared for age, estimated years from onset, global and sum of boxes scores of the CDR® plus NACC FTLD (at baseline and after one year), neurofilament light chain (NfL) levels in the plasma and w‐scores in brain regions typically showing early atrophy (Kruskal‐Wallis test). Result We identified three clusters among the GRN mutation carriers and four in the MAPT and C9orf72 groups, which were all significantly different for the variables reported in the Table (p‐value 〈 0.003). For all three genetic groups, one cluster was formed by patients with a clinical diagnosis of FTD, with more extensive atrophy and increased disease severity. For the remaining clusters, there seemed to be an association with disease severity for MAPT and GRN mutation carriers but not so for C9orf72 expansion carriers where clinical scores were not clearly associated with a specific cluster. Conclusion By only looking at regional brain volumes, we were able to detect different clusters within carriers of mutations in the same gene, with C9orf72 expansion carriers being the most heterogenous group. Further investigations with specific cognitive, clinical and biomarkers correlates, including further follow‐up visits, are needed.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v17.S5
    DOI: 10.1002/alz.052189
    Language: English
    Publisher: Wiley
    Publication Date: 2021
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  • 4
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    Hypothalamic volumes predict sleep dysfunction in genetic frontotemporal dementia
    Wiley ; 2023
    In:  Alzheimer's & Dementia Vol. 19, No. S3 ( 2023-06)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 19, No. S3 ( 2023-06)
    Abstract: Sleep dysfunction is common in neurodegenerative disorders, however, its neural correlates, remain poorly characterized in genetic frontotemporal dementia (FTD). Atrophy in two hypothalamic nuclei, the suprachiasmatic nucleus and the lateral hypothalamic area, important for sleep regulation, may be related to this dysfunction. Thus, we examined changes in cerebral and hypothalamic structure across the lifespan in genetic FTD and their relations to measures of sleep dysfunction. Method Data was retrieved from the Genetic Frontotemporal Dementia Initiative (GENFI). T1‐weighted structural MRI images and scores on the Cambridge Behavioural Inventory‐Revised (CBI‐R) sleep subscale were obtained from subjects with mutations causative of FTD (n = 491, scan number = 1029) and healthy controls (n = 321, scan number = 739). MRI images were processed for cortical thickness using CIVET 2.1 and hypothalamic volumes using a deep learning segmentation algorithm (Billot et al., NeuroImage 2020). Using linear mixed‐effects models, we examined changes in sleep dysfunction, vertex‐wise differences in cortical thickness, and volumetric changes in hypothalamic regions in mutation carriers compared to controls. Further, using linear mixed‐effects models, we examined associations between cortical and hypothalamic atrophy and changes in the CBI‐R sleep subscale while controlling for age, sex, scanning site, and disease severity based on the MMSE. Result Mutation carriers showed greater sleep dysfunction across the lifespan, and this increased closer to the predicted onset of symptoms, compared to controls (p 〈 0.01), with MAPT carriers having greater dysfunction overall (figure 1). All mutation carriers showed patterns of cortical thinning (figure 2) commensurate with the literature (p 〈 0.05, FDR corrected). Further, cortical thinning in frontal and parietal regions were associated with greater sleep disturbance in C9orf72 and GRN mutation carriers (p 〈 0.05, FDR corrected) (figure 3). Lastly, MAPT mutation carriers showed consistently significant hypothalamic volume loss across the lifespan (figure 4) (p 〈 0.01) and reduced hypothalamic volumes were related to increased sleep dysfunction (p 〈 0.05) (Figure 5). Conclusion These findings suggest that while cortical thinning in C9orf72 and GRN carriers non‐specifically correlate with increased sleep dysfunction, the increased sleep dysfunction observed in MAPT carriers may be attributable to increased hypothalamic atrophy.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v19.S3
    DOI: 10.1002/alz.061536
    Language: English
    Publisher: Wiley
    Publication Date: 2023
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  • 5
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    Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
    Wiley ; 2023
    In:  Human Brain Mapping Vol. 44, No. 7 ( 2023-05), p. 2684-2700
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    In: Human Brain Mapping, Wiley, Vol. 44, No. 7 ( 2023-05), p. 2684-2700
    Abstract: Recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule‐associated protein tau ( MAPT ), progranulin ( GRN ) and chromosome 9 open reading frame 72 ( C9orf72 ). However, the cerebello‐subcortical circuitry in FTD has been understudied despite its essential role in cognition and behaviors related to FTD symptomatology. The present study aims to investigate the association between cerebellar and subcortical atrophy, and neuropsychiatric symptoms across genetic mutations. Our study included 983 participants from the Genetic Frontotemporal dementia Initiative including mutation carriers and noncarrier first‐degree relatives of known symptomatic carriers. Voxel‐wise analysis of the thalamus, striatum, globus pallidus, amygdala, and the cerebellum was performed, and partial least squares analyses (PLS) were used to link morphometry and behavior. In presymptomatic C9orf72 expansion carriers, thalamic atrophy was found compared to noncarriers, suggesting the importance of this structure in FTD prodromes. PLS analyses demonstrated that the cerebello‐subcortical circuitry is related to neuropsychiatric symptoms, with significant overlap in brain/behavior patterns, but also specificity for each genetic mutation group. The largest differences were in the cerebellar atrophy (larger extent in C9orf72 expansion group) and more prominent amygdalar volume reduction in the MAPT group. Brain scores in the C9orf72 expansion carriers and MAPT carriers demonstrated covariation patterns concordant with atrophy patterns detectable up to 20 years before expected symptom onset. Overall, these results demonstrated the important role of the subcortical structures in genetic FTD symptom expression, particularly the cerebellum in C9orf72 and the amygdala in MAPT  carriers.
    Type of Medium: Online Resource
    ISSN: 1065-9471 , 1097-0193
    URL: Issue
    URL: Article
    DOI: 10.1002/hbm.v44.7
    DOI: 10.1002/hbm.26220
    Language: English
    Publisher: Wiley
    Publication Date: 2023
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  • 6
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    Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia
    Wiley ; 2024
    In:  Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring Vol. 16, No. 2 ( 2024-04)
    Details
    In: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, Wiley, Vol. 16, No. 2 ( 2024-04)
    Abstract: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD‐NM scale. This was assessed in 522 mutation carriers and 310 mutation‐negative controls from the Genetic Frontotemporal dementia Initiative (GENFI). RESULTS The new scale led to higher global severity scores than the CDR plus NACC FTLD: 1.4% of participants were now considered prodromal rather than asymptomatic, while 1.3% were now considered symptomatic rather than asymptomatic or prodromal. No participants with a clinical diagnosis of an FTD spectrum disorder were classified as asymptomatic using the new scales. DISCUSSION Adding new domains to the CDR plus NACC FTLD leads to a scale that encompasses the wider phenotypic spectrum of FTD with further work needed to validate its use more widely. Highlights The new Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains neuropsychiatric and motor (CDR plus NACC FTLD‐NM) rating scale was significantly positively correlated with the original CDR plus NACC FTLD and negatively correlated with the FTD Rating Scale (FRS). No participants with a clinical diagnosis in the frontotemporal dementia spectrum were classified as asymptomatic with the new CDR plus NACC FTLD‐NM rating scale. Individuals had higher global severity scores with the addition of the neuropsychiatric and motor domains. A receiver operating characteristic analysis of symptomatic diagnosis showed nominally higher areas under the curve for the new scales.
    Type of Medium: Online Resource
    ISSN: 2352-8729 , 2352-8729
    URL: Issue
    URL: Article
    DOI: 10.1002/dad2.v16.2
    DOI: 10.1002/dad2.12571
    Language: English
    Publisher: Wiley
    Publication Date: 2024
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  • 7
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    CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia
    Wiley ; 2022
    In:  Annals of Clinical and Translational Neurology Vol. 9, No. 11 ( 2022-11), p. 1764-1777
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    In: Annals of Clinical and Translational Neurology, Wiley, Vol. 9, No. 11 ( 2022-11), p. 1764-1777
    Abstract: Neuroinflammation has been shown to be an important pathophysiological disease mechanism in frontotemporal dementia (FTD). This includes activation of microglia, a process that can be measured in life through assaying different glia‐derived biomarkers in cerebrospinal fluid. However, only a few studies so far have taken place in FTD, and even fewer focusing on the genetic forms of FTD. Methods We investigated the cerebrospinal fluid concentrations of TREM2, YKL‐40 and chitotriosidase using immunoassays in 183 participants from the Genetic FTD Initiative (GENFI) study: 49 C9orf72 (36 presymptomatic, 13 symptomatic), 49 GRN (37 presymptomatic, 12 symptomatic) and 23 MAPT (16 presymptomatic, 7 symptomatic) mutation carriers and 62 mutation‐negative controls. Concentrations were compared between groups using a linear regression model adjusting for age and sex, with 95% bias‐corrected bootstrapped confidence intervals. Concentrations in each group were correlated with the Mini‐Mental State Examination (MMSE) score using non‐parametric partial correlations adjusting for age. Age‐adjusted z ‐scores were also created for the concentration of markers in each participant, investigating how many had a value above the 95th percentile of controls. Results Only chitotriosidase in symptomatic GRN mutation carriers had a concentration significantly higher than controls. No group had higher TREM2 or YKL‐40 concentrations than controls after adjusting for age and sex. There was a significant negative correlation of chitotriosidase concentration with MMSE in presymptomatic GRN mutation carriers. In the symptomatic groups, for TREM2 31% of C9orf72 , 25% of GRN , and 14% of MAPT mutation carriers had a concentration above the 95 th percentile of controls. For YKL‐40 this was 8% C9orf72 , 8% GRN and 0% MAPT mutation carriers, whilst for chitotriosidase it was 23% C9orf72 , 50% GRN , and 29% MAPT mutation carriers. Conclusions Although chitotriosidase concentrations in GRN mutation carriers were the only significantly raised glia‐derived biomarker as a group, a subset of mutation carriers in all three groups, particularly for chitotriosidase and TREM2, had elevated concentrations. Further work is required to understand the variability in concentrations and the extent of neuroinflammation across the genetic forms of FTD. However, the current findings suggest limited utility of these measures in forthcoming trials.
    Type of Medium: Online Resource
    ISSN: 2328-9503 , 2328-9503
    URL: Issue
    URL: Article
    DOI: 10.1002/acn3.v9.11
    DOI: 10.1002/acn3.51672
    Language: English
    Publisher: Wiley
    Publication Date: 2022
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  • 8
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    Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia
    Wiley ; 2022
    In:  Alzheimer's & Dementia Vol. 18, No. 7 ( 2022-07), p. 1408-1423
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    In: Alzheimer's & Dementia, Wiley, Vol. 18, No. 7 ( 2022-07), p. 1408-1423
    Abstract: The presymptomatic stages of frontotemporal dementia (FTD) are still poorly defined and encompass a long accrual of progressive biological (preclinical) and then clinical (prodromal) changes, antedating the onset of dementia. The heterogeneity of clinical presentations and the different neuropathological phenotypes have prevented a prior clear description of either preclinical or prodromal FTD. Recent advances in therapeutic approaches, at least in monogenic disease, demand a proper definition of these predementia stages. It has become clear that a consensus lexicon is needed to comprehensively describe the stages that anticipate dementia. The goal of the present work is to review existing literature on the preclinical and prodromal phases of FTD, providing recommendations to address the unmet questions, therefore laying out a strategy for operationalizing and better characterizing these presymptomatic disease stages.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v18.7
    DOI: 10.1002/alz.12485
    Language: English
    Publisher: Wiley
    Publication Date: 2022
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  • 9
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    Pattern of progression in MAPT‐related frontotemporal dementia: Results from the GENFI study
    Wiley ; 2021
    In:  Alzheimer's & Dementia Vol. 17, No. S1 ( 2021-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 17, No. S1 ( 2021-12)
    Abstract: Mutations in MAPT are associated with frontotemporal dementia (FTD), but little is known about the progression in its early stages. We aimed at identifying the presence of early brain changes in MAPT mutation carriers. Method We included 3T MRIs from 84 MAPT carriers [27 symptomatic: mean(SD) age 58(8) years; 57 presymptomatic: 40(11) years] from the Genetic FTD Initiative (GENFI) and from 77 age‐matched non‐carrier healthy controls (44(14) years). Based on their expected years to symptom onset (EYO), we divided the presymptomatic carriers into early (n=35, 〈 ‐10 years) and late (n=22, 〉 ‐10 years) groups. First, we performed voxel‐based morphometry (VBM) comparing 24 symptomatic carriers with 32 controls to identify the regions of interest (ROIs) which were atrophic in the symptomatic stage of MAPT . We then used automated and manual segmentations to extract these ROI volumes in all carriers. To remove the effect of age, gender, total intracranial volume and scanner type, we transformed the volumes into w‐scores, considering the controls as the reference group. A w‐score of 〈 ‐1.28 (corresponding to the 10 th percentile) was considered abnormal. Result From the VBM we identified seven structures significantly atrophic in symptomatic carriers: the nucleus accumbens, amygdala, hippocampus, orbitofrontal cortex, temporal pole, anterior insula and hypothalamus. The percentage of early presymptomatic carriers with abnormal w‐scores was 14% for nucleus accumbens and hippocampus, and 20% orbitofrontal cortex. In the late group, 36% showed abnormal amygdala and temporal pole, 27% abnormal hippocampus, 32% abnormal anterior insula and 9% abnormal hypothalamus. In the symptomatic group, the percentages were higher: nucleus accumbens (41%), amygdala, hippocampus and temporal pole (85%), orbitofrontal cortex (56%), anterior insula (93%) and hypothalamus (48%). Conclusion Abnormal limbic regions are a frequent feature in presymptomatic MAPT carriers, showing early structural changes before symptom onset. Further investigations on the associated cognitive and white matter changes are ongoing.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v17.S1
    DOI: 10.1002/alz.052265
    Language: English
    Publisher: Wiley
    Publication Date: 2021
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  • 10
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    Detecting clinical progression from abnormal regional brain volumes at baseline in genetic frontotemporal dementia: A GENFI study
    Wiley ; 2021
    In:  Alzheimer's & Dementia Vol. 17, No. S1 ( 2021-12)
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 17, No. S1 ( 2021-12)
    Abstract: Genetic frontotemporal dementia is highly heterogeneous, with different progression patterns seen between individuals. Using in vivo MR images from the Genetic FTD Initiative (GENFI), we aimed to identify clinical progression in genetic mutation carriers from their brain volumes at baseline. Method Cortical and subcortical volumes of interest (VOIs) were generated using automated parcellation methods on volumetric 3T T1‐weighted MRI scans for 480 carriers (198 GRN , 202 C9orf72 , 80 MAPT ). W‐scores for 79 VOIs were computed from a linear regression model carried out on 298 non‐carrier cognitively normal controls adjusting for the effect of age, sex, total intracranial volume and scanner type. Carriers were divided into three disease stages based on their global CDR® plus NACC FTLD score (CDR‐GS): asymptomatic (0), possibly or mildly symptomatic (0.5) and fully symptomatic (1 or more). Cut‐off points for each VOI were derived from Youden indices estimated with ROC curves to distinguish between CDR‐GS=0 and CDR‐GS≥1 within each gene. CDR‐GS=0.5 carriers (30 GRN , 32 C9orf72 , 13 MAPT ) were classified as ‘normal’ or ‘abnormal’ based on these cut‐off points. We compared the CDR® plus NACC FTLD sum‐of‐boxes scores (CDR‐SOB) at one year follow‐up in these two groups. Result Compared to those with normal baseline volumes, C9orf72 expansion carriers at CDR‐GS=0.5 showed significantly higher CDR‐SOB scores at follow‐up if they had abnormal volumes in the total frontal (+5 points), orbitofrontal (+3), dorsolateral prefrontal (+6), or anterior cingulate (+4) cortices, the basal‐paralaminar amygdala region (+2), CA1 region of the hippocampus (+4), total hippocampus (+6), cerebellar lobule VIIIb (+4), or lateral ventricles (+8). GRN mutation carriers showed significantly higher CDR‐SOB scores if their volumes were abnormal in the frontal (+10), parietal (+14), insula (+8), orbitofrontal (+12), or medial parietal (+7) cortices, or the total hippocampus (+10). MAPT mutation carriers with abnormal volumes in the lobule VI and dentate nucleus had 1 point higher CDR‐SOB scores at follow‐up. Conclusion Abnormal baseline volumes in specific VOI within each of the genetic groups were related to worse CDR‐SOB scores over time. Future studies including longer follow‐up intervals and other longitudinal biomarkers are needed to explore this further.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v17.S1
    DOI: 10.1002/alz.050928
    Language: English
    Publisher: Wiley
    Publication Date: 2021
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