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  1. Article ; Online: Novel instructionless eye tracking tasks identify emotion recognition deficits in frontotemporal dementia.

    Russell, Lucy L / Greaves, Caroline V / Convery, Rhian S / Nicholas, Jennifer / Warren, Jason D / Kaski, Diego / Rohrer, Jonathan D

    Alzheimer's research & therapy

    2021  Volume 13, Issue 1, Page(s) 39

    Abstract: Background: Current tasks measuring social cognition are usually 'pen and paper' tasks, have ceiling effects and include complicated test instructions that may be difficult to understand for those with cognitive impairment. We therefore aimed to develop ...

    Abstract Background: Current tasks measuring social cognition are usually 'pen and paper' tasks, have ceiling effects and include complicated test instructions that may be difficult to understand for those with cognitive impairment. We therefore aimed to develop a set of simple, instructionless, quantitative, tasks of emotion recognition using the methodology of eye tracking, with the subsequent aim of assessing their utility in individuals with behavioural variant frontotemporal dementia (bvFTD).
    Methods: Using the Eyelink 1000 Plus eye tracker, 18 bvFTD and 22 controls completed tasks of simple and complex emotion recognition that involved viewing four images (one target face (simple) or pair of eyes (complex) and the others non-target) followed by a target emotion word and lastly the original four images alongside the emotion word. A dwell time change score was then calculated as the main outcome measure by subtracting the percentage dwell time for the target image before the emotion word appeared away from the percentage dwell time for the target image after the emotion word appeared. All participants also underwent a standard cognitive battery and volumetric T1-weighted magnetic resonance imaging.
    Results: Analysis using a mixed effects model showed that the average (standard deviation) mean dwell time change score in the target interest area was 35 (27)% for the control group compared with only 4 (18)% for the bvFTD group (p < 0.05) for the simple emotion recognition task, and 15 (26)% for the control group compared with only 2 (18)% for the bvFTD group (p < 0.05) for the complex emotion recognition task. Worse performance in the bvFTD group correlated with atrophy in the right ventromedial prefrontal and orbitofrontal cortices, brain regions previously implicated in social cognition.
    Conclusions: In summary, eye tracking is a viable tool for assessing social cognition in individuals with bvFTD, being well-tolerated and able to overcome some of the problems associated with standard psychometric tasks.
    MeSH term(s) Brain/diagnostic imaging ; Emotions ; Eye-Tracking Technology ; Frontotemporal Dementia/diagnostic imaging ; Humans ; Magnetic Resonance Imaging ; Neuropsychological Tests
    Language English
    Publishing date 2021-02-08
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2506521-X
    ISSN 1758-9193 ; 1758-9193
    ISSN (online) 1758-9193
    ISSN 1758-9193
    DOI 10.1186/s13195-021-00775-x
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  2. Article ; Online: Eye movements in frontotemporal dementia: Abnormalities of fixation, saccades and anti-saccades.

    Russell, Lucy L / Greaves, Caroline V / Convery, Rhian S / Bocchetta, Martina / Warren, Jason D / Kaski, Diego / Rohrer, Jonathan D

    Alzheimer's & dementia (New York, N. Y.)

    2021  Volume 7, Issue 1, Page(s) e12218

    Abstract: Introduction: Oculomotor function has not been systematically studied in frontotemporal dementia (FTD) and yet may offer a simple target to monitor disease activity.: Methods: We assessed fixation stability, smooth pursuit, pro-saccades, and anti- ... ...

    Abstract Introduction: Oculomotor function has not been systematically studied in frontotemporal dementia (FTD) and yet may offer a simple target to monitor disease activity.
    Methods: We assessed fixation stability, smooth pursuit, pro-saccades, and anti-saccades using the Eyelink 1000-plus eye-tracker in 19 individuals with behavioral variant FTD (bvFTD) and 22 controls. Neuroanatomical correlates were assessed using a region of interest magnetic resonance imaging (MRI) analysis.
    Results: Measures of fixation stability were impaired in the bvFTD group compared with controls. However, performance did not differ from controls in the pro-saccade tasks except in the vertical overlap condition. The bvFTD group performed worse in the anti-saccade task, which correlated strongly with executive function. Neural correlates included the orbitofrontal and ventromedial prefrontal cortices and striatum for fixation stability, and the dorsolateral prefrontal and parietal cortices and striatum for anti-saccades.
    Discussion: Overall, oculomotor function is abnormal in bvFTD, with performance likely related to impairment of inhibitory control and executive dysfunction.
    Language English
    Publishing date 2021-12-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2832891-7
    ISSN 2352-8737 ; 2352-8737
    ISSN (online) 2352-8737
    ISSN 2352-8737
    DOI 10.1002/trc2.12218
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  3. Article: Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.

    Samra, Kiran / Peakman, Georgia / MacDougall, Amy M / Bouzigues, Arabella / Greaves, Caroline V / Convery, Rhian S / van Swieten, John C / Jiskoot, Lize / Seelaar, Harro / Moreno, Fermin / Sanchez-Valle, Raquel / Laforce, Robert / Graff, Caroline / Masellis, Mario / Tartaglia, Maria Carmela / Rowe, James B / Borroni, Barbara / Finger, Elizabeth / Synofzik, Matthis /
    Galimberti, Daniela / Vandenberghe, Rik / de Mendonça, Alexandre / Butler, Chris R / Gerhard, Alexander / Ducharme, Simon / Ber, Isabelle Le / Tiraboschi, Pietro / Santana, Isabel / Pasquier, Florence / Levin, Johannes / Otto, Markus / Sorbi, Sandro / Rohrer, Jonathan D / Russell, Lucy L

    Alzheimer's & dementia (Amsterdam, Netherlands)

    2024  Volume 16, Issue 2, Page(s) e12571

    Abstract: Introduction: 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 ... ...

    Abstract Introduction: 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.
    Language English
    Publishing date 2024-04-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2832898-X
    ISSN 2352-8729
    ISSN 2352-8729
    DOI 10.1002/dad2.12571
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  4. Article ; Online: Basal forebrain atrophy in frontotemporal dementia.

    Convery, Rhian S / Neason, Mollie R / Cash, David M / Cardoso, M Jorge / Modat, Marc / Ourselin, Sebastien / Warren, Jason D / Rohrer, Jonathan D / Bocchetta, Martina

    NeuroImage. Clinical

    2020  Volume 26, Page(s) 102210

    Abstract: Background: The basal forebrain is a subcortical structure that plays an important role in learning, attention, and memory. Despite the known subcortical involvement in frontotemporal dementia (FTD), there is little research into the role of the basal ... ...

    Abstract Background: The basal forebrain is a subcortical structure that plays an important role in learning, attention, and memory. Despite the known subcortical involvement in frontotemporal dementia (FTD), there is little research into the role of the basal forebrain in this disease. We aimed to investigate differences in basal forebrain volumes between clinical, genetic, and pathological diagnoses of FTD.
    Methods: 356 patients with FTD were recruited from the UCL Dementia Research Centre and matched on age and gender with 83 cognitively normal controls. All subjects had a T1-weighted MR scan suitable for analysis. Basal forebrain volumes were calculated using the Geodesic Information Flow (GIF) parcellation method and were compared between clinical (148 bvFTD, 82 svPPA, 103 nfvPPA, 14 PPA-NOS, 9 FTD-MND), genetic (24 MAPT, 15 GRN, 26 C9orf72) and pathological groups (28 tau, 3 FUS, 35 TDP-43) and controls. A subanalysis was also performed comparing pathological subgroups of tau (11 Pick's disease, 6 FTDP-17, 7 CBD, 4 PSP) and TDP-43 (12 type A, 2 type B, 21 type C).
    Results: All clinical subtypes of FTD showed significantly smaller volumes than controls (p ≤ 0.010, ANCOVA), with svPPA (10% volumetric difference) and bvFTD (9%) displaying the smallest volumes. Reduced basal forebrain volumes were also seen in MAPT mutations (18%, p < 0.0005) and in individuals with pathologically confirmed FTDP-17 (17%), Pick's disease (12%), and TDP-43 type C (8%) (p < 0.001).
    Conclusion: Involvement of the basal forebrain is a common feature in FTD, although the extent of volume reduction differs between clinical, genetic, and pathological diagnoses. Tauopathies, particularly those with MAPT mutations, had the smallest volumes. However, atrophy was also seen in those with TDP-43 type C pathology (most of whom have svPPA clinically). This suggests that the basal forebrain is vulnerable to multiple types of FTD-associated protein inclusions.
    MeSH term(s) Aged ; Atrophy/pathology ; Basal Forebrain/pathology ; Female ; Frontotemporal Dementia/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged
    Language English
    Publishing date 2020-02-13
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701571-3
    ISSN 2213-1582 ; 2213-1582
    ISSN (online) 2213-1582
    ISSN 2213-1582
    DOI 10.1016/j.nicl.2020.102210
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  5. Article ; Online: Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales.

    Samra, Kiran / Macdougall, Amy / Peakman, Georgia / Bouzigues, Arabella / Bocchetta, Martina / Cash, David M / Greaves, Caroline V / Convery, Rhian S / van Swieten, John C / Jiskoot, Lize C / Seelaar, Harro / Moreno, Fermin / Sánchez-Valle, Raquel / Laforce, Robert / Graff, Caroline / Masellis, Mario / Tartaglia, Maria Carmela / Rowe, James B / Borroni, Barbara /
    Finger, Elizabeth / Synofzik, Matthis / Galimberti, Daniela / Vandenberghe, Rik / de Mendonca, Alexandre / Butler, Christopher R / Gerhard, Alexander / Ducharme, Simon / Le Ber, Isabelle / Tiraboschi, Pietro / Santana, Isabel / Pasquier, Florence / Levin, Johannes / Otto, Markus / Sorbi, Sandro / Rohrer, Jonathan D / Russell, Lucy L

    Journal of neurology, neurosurgery, and psychiatry

    2023  Volume 94, Issue 5, Page(s) 357–368

    Abstract: 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) ... ...

    Abstract 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%
    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.
    MeSH term(s) Humans ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/genetics ; Psychotic Disorders ; Hallucinations/genetics ; Mental Status and Dementia Tests ; Anxiety
    Language English
    Publishing date 2023-01-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2022-330152
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  6. Article ; Online: Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.

    Samra, Kiran / MacDougall, Amy M / Bouzigues, Arabella / Bocchetta, Martina / Cash, David M / Greaves, Caroline V / Convery, Rhian S / van Swieten, John C / Jiskoot, Lize / Seelaar, Harro / Moreno, Fermin / Sanchez-Valle, Raquel / Laforce, Robert / Graff, Caroline / Masellis, Mario / Tartaglia, Maria Carmela / Rowe, James B / Borroni, Barbara / Finger, Elizabeth /
    Synofzik, Matthis / Galimberti, Daniela / Vandenberghe, Rik / de Mendonça, Alexandre / Butler, Chris R / Gerhard, Alex / Ducharme, Simon / Le Ber, Isabelle / Tiraboschi, Pietro / Santana, Isabel / Pasquier, Florence / Levin, Johannes / Otto, Markus / Sorbi, Sandro / Rohrer, Jonathan D / Russell, Lucy L

    Journal of the neurological sciences

    2023  Volume 451, Page(s) 120711

    Abstract: Objective: To identify whether language impairment exists presymptomatically in genetic frontotemporal dementia (FTD), and if so, the key differences between the main genetic mutation groups.: Methods: 682 participants from the international ... ...

    Abstract Objective: To identify whether language impairment exists presymptomatically in genetic frontotemporal dementia (FTD), and if so, the key differences between the main genetic mutation groups.
    Methods: 682 participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 290 asymptomatic and 82 prodromal mutation carriers (with C9orf72, GRN, and MAPT mutations) as well as 310 mutation-negative controls. Language was assessed using items from the Progressive Aphasia Severity Scale, as well as the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency task. Participants also underwent a 3 T volumetric T1-weighted MRI from which regional brain volumes within the language network were derived and compared between the groups.
    Results: 3% of asymptomatic (4% C9orf72, 4% GRN, 2% MAPT) and 48% of prodromal (46% C9orf72, 42% GRN, 64% MAPT) mutation carriers had impairment in at least one language symptom compared with 13% of controls. In prodromal mutation carriers significantly impaired word retrieval was seen in all three genetic groups whilst significantly impaired grammar/syntax and decreased fluency was seen only in C9orf72 and GRN mutation carriers, and impaired articulation only in the C9orf72 group. Prodromal MAPT mutation carriers had significant impairment on the category fluency task and the BNT whilst prodromal C9orf72 mutation carriers were impaired on the category fluency task only. Atrophy in the dominant perisylvian language regions differed between groups, with earlier, more widespread volume loss in C9orf72, and later focal atrophy in the temporal lobe in MAPT mutation carriers.
    Conclusions: Language deficits exist in the prodromal but not asymptomatic stages of genetic FTD across all three genetic groups. Improved understanding of the language phenotype prior to phenoconversion to fully symptomatic FTD will help develop outcome measures for future presymptomatic trials.
    MeSH term(s) Humans ; Frontotemporal Dementia/diagnostic imaging ; Frontotemporal Dementia/genetics ; Progranulins/genetics ; C9orf72 Protein/genetics ; Atrophy ; Mutation/genetics ; Language Development Disorders ; tau Proteins/genetics
    Chemical Substances Progranulins ; C9orf72 Protein ; tau Proteins
    Language English
    Publishing date 2023-06-10
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2023.120711
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  7. Article ; Online: Diagnostic accuracy of research criteria for prodromal frontotemporal dementia.

    Benussi, Alberto / Premi, Enrico / Grassi, Mario / Alberici, Antonella / Cantoni, Valentina / Gazzina, Stefano / Archetti, Silvana / Gasparotti, Roberto / Fumagalli, Giorgio G / Bouzigues, Arabella / Russell, Lucy L / Samra, Kiran / Cash, David M / Bocchetta, Martina / Todd, Emily G / Convery, Rhian S / Swift, Imogen / Sogorb-Esteve, Aitana / Heller, Carolin /
    van Swieten, John C / Jiskoot, Lize C / Seelaar, Harro / Sanchez-Valle, Raquel / Moreno, Fermin / Laforce, Robert Jr / Graff, Caroline / Synofzik, Matthis / Galimberti, Daniela / Rowe, James B / Masellis, Mario / Tartaglia, Maria Carmela / Finger, Elizabeth / Vandenberghe, Rik / Mendonça, Alexandre / Tiraboschi, Pietro / Butler, Chris R / Santana, Isabel / Gerhard, Alexander / Le Ber, Isabelle / Pasquier, Florence / Ducharme, Simon / Levin, Johannes / Sorbi, Sandro / Otto, Markus / Padovani, Alessandro / Rohrer, Jonathan D / Borroni, Barbara

    Alzheimer's research & therapy

    2024  Volume 16, Issue 1, Page(s) 10

    Abstract: Background: The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral and/or motor impairment (MCBMI). The objective of the ... ...

    Abstract Background: The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral and/or motor impairment (MCBMI). The objective of the study was to validate the proposed research criteria for MCBMI-FTD in a cohort of genetically confirmed FTD cases against healthy controls.
    Methods: A total of 398 participants were enrolled, 117 of whom were carriers of an FTD pathogenic variant with mild clinical symptoms, while 281 were non-carrier family members (healthy controls (HC)). A subgroup of patients underwent blood neurofilament light (NfL) levels and anterior cingulate atrophy assessment.
    Results: The core clinical criteria correctly classified MCBMI vs HC with an AUC of 0.79 (p < 0.001), while the addition of either blood NfL or anterior cingulate atrophy significantly increased the AUC to 0.84 and 0.82, respectively (p < 0.001). The addition of both markers further increased the AUC to 0.90 (p < 0.001).
    Conclusions: The proposed MCBMI criteria showed very good classification accuracy for identifying the prodromal stage of FTD.
    MeSH term(s) Humans ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/genetics ; Neurofilament Proteins ; Biomarkers ; Atrophy
    Chemical Substances Neurofilament Proteins ; Biomarkers
    Language English
    Publishing date 2024-01-12
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2506521-X
    ISSN 1758-9193 ; 1758-9193
    ISSN (online) 1758-9193
    ISSN 1758-9193
    DOI 10.1186/s13195-024-01383-1
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  8. Article ; Online: Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.

    Bouzigues, Arabella / Russell, Lucy L / Peakman, Georgia / Bocchetta, Martina / Greaves, Caroline V / Convery, Rhian S / Todd, Emily / Rowe, James B / Borroni, Barbara / Galimberti, Daniela / Tiraboschi, Pietro / Masellis, Mario / Tartaglia, Maria Carmela / Finger, Elizabeth / van Swieten, John C / Seelaar, Harro / Jiskoot, Lize / Sorbi, Sandro / Butler, Chris R /
    Graff, Caroline / Gerhard, Alexander / Langheinrich, Tobias / Laforce, Robert / Sanchez-Valle, Raquel / de Mendonça, Alexandre / Moreno, Fermin / Synofzik, Matthis / Vandenberghe, Rik / Ducharme, Simon / Le Ber, Isabelle / Levin, Johannes / Danek, Adrian / Otto, Markus / Pasquier, Florence / Santana, Isabel / Rohrer, Jonathan D

    Journal of neurology

    2022  Volume 269, Issue 8, Page(s) 4322–4332

    Abstract: Introduction: A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior ... ...

    Abstract Introduction: A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the disease but few have studied naming in detail.
    Methods: We investigated performance on the Boston Naming Test (BNT) in the GENetic Frontotemporal dementia Initiative cohort of 499 mutation carriers and 248 mutation-negative controls divided across three genetic groups: C9orf72, MAPT and GRN. Mutation carriers were further divided into 3 groups according to their global CDR plus NACC FTLD score: 0 (asymptomatic), 0.5 (prodromal) and 1 + (fully symptomatic). Groups were compared using a bootstrapped linear regression model, adjusting for age, sex, language and education. Finally, we identified neural correlates of anomia within carriers of each genetic group using a voxel-based morphometry analysis.
    Results: All symptomatic groups performed worse on the BNT than controls with the MAPT symptomatic group scoring the worst. Furthermore, MAPT asymptomatic and prodromal groups performed significantly worse than controls. Correlates of anomia in MAPT mutation carriers included bilateral anterior temporal lobe regions and the anterior insula. Similar bilateral anterior temporal lobe involvement was seen in C9orf72 mutation carriers as well as more widespread left frontal atrophy. In GRN mutation carriers, neural correlates were limited to the left hemisphere, and involved frontal, temporal, insula and striatal regions.
    Conclusion: This study suggests the development of early anomia in MAPT mutation carriers, likely to be associated with impaired semantic knowledge. Clinical trials focused on the prodromal period within individuals with MAPT mutations should use language tasks, such as the BNT for patient stratification and as outcome measures.
    MeSH term(s) Anomia/complications ; C9orf72 Protein/genetics ; Frontotemporal Dementia/complications ; Frontotemporal Dementia/diagnostic imaging ; Frontotemporal Dementia/genetics ; Humans ; Mutation ; Progranulins/genetics ; tau Proteins/genetics
    Chemical Substances C9orf72 Protein ; MAPT protein, human ; Progranulins ; tau Proteins
    Language English
    Publishing date 2022-03-29
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-022-11068-0
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  9. Article ; Online: Language impairment in the genetic forms of behavioural variant frontotemporal dementia.

    Samra, Kiran / MacDougall, Amy M / Bouzigues, Arabella / Bocchetta, Martina / Cash, David M / Greaves, Caroline V / Convery, Rhian S / van Swieten, John C / Seelaar, Harro / Jiskoot, Lize / Moreno, Fermin / Sanchez-Valle, Raquel / Laforce, Robert / Graff, Caroline / Masellis, Mario / Tartaglia, Maria Carmela / Rowe, James B / Borroni, Barbara / Finger, Elizabeth /
    Synofzik, Matthis / Galimberti, Daniela / Vandenberghe, Rik / de Mendonça, Alexandre / Butler, Christopher R / Gerhard, Alexander / Ducharme, Simon / Le Ber, Isabelle / Tiraboschi, Pietro / Santana, Isabel / Pasquier, Florence / Levin, Johannes / Otto, Markus / Sorbi, Sandro / Rohrer, Jonathan D / Russell, Lucy L

    Journal of neurology

    2022  Volume 270, Issue 4, Page(s) 1976–1988

    Abstract: Background: Behavioural variant fronto-temporal dementia (bvFTD) is characterised by a progressive change in personality in association with atrophy of the frontal and temporal lobes. Whilst language impairment has been described in people with bvFTD, ... ...

    Abstract Background: Behavioural variant fronto-temporal dementia (bvFTD) is characterised by a progressive change in personality in association with atrophy of the frontal and temporal lobes. Whilst language impairment has been described in people with bvFTD, little is currently known about the extent or type of linguistic difficulties that occur, particularly in the genetic forms.
    Methods: Participants with genetic bvFTD along with healthy controls were recruited from the international multicentre Genetic FTD Initiative (GENFI). Linguistic symptoms were assessed using items from the Progressive Aphasia Severity Scale (PASS). Additionally, participants undertook the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency test. Participants underwent a 3T volumetric T1-weighted MRI, with language network regional brain volumes measured and compared between the genetic groups and controls.
    Results: 76% of the genetic bvFTD cohort had impairment in at least one language symptom: 83% C9orf72, 80% MAPT and 56% GRN mutation carriers. All three genetic groups had significantly impaired functional communication, decreased fluency, and impaired sentence comprehension. C9orf72 mutation carriers also had significantly impaired articulation and word retrieval as well as dysgraphia whilst the MAPT mutation group also had impaired word retrieval and single word comprehension. All three groups had difficulties with naming, semantic knowledge and verbal fluency. Atrophy in key left perisylvian language regions differed between the groups, with generalised involvement in the C9orf72 group and more focal temporal and insula involvement in the other groups. Correlates of language symptoms and test scores also differed between the groups.
    Conclusions: Language deficits exist in a substantial proportion of people with familial bvFTD across all three genetic groups. Significant atrophy is seen in the dominant perisylvian language areas and correlates with language impairments within each of the genetic groups. Improved understanding of the language phenotype in the main genetic bvFTD subtypes will be helpful in future studies, particularly in clinical trials where accurate stratification and monitoring of disease progression is required.
    MeSH term(s) Humans ; Frontotemporal Dementia/diagnostic imaging ; Frontotemporal Dementia/genetics ; C9orf72 Protein/genetics ; Magnetic Resonance Imaging ; Atrophy ; Language Development Disorders ; tau Proteins/genetics ; Mutation/genetics
    Chemical Substances C9orf72 Protein ; tau Proteins
    Language English
    Publishing date 2022-12-20
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-022-11512-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort.

    Foster, Phoebe H / Russell, Lucy L / Peakman, Georgia / Convery, Rhian S / Bouzigues, Arabella / Greaves, Caroline V / Bocchetta, Martina / Cash, David M / van Swieten, John C / Jiskoot, Lize C / Moreno, Fermin / Sanchez-Valle, Raquel / Laforce, Robert / Graff, Caroline / Masellis, Mario / Tartaglia, Carmela / Rowe, James B / Borroni, Barbara / Finger, Elizabeth /
    Synofzik, Matthis / Galimberti, Daniela / Vandenberghe, Rik / de Mendonça, Alexandre / Butler, Chris R / Gerhard, Alex / Ducharme, Simon / Le Ber, Isabelle / Tagliavini, Fabrizio / Santana, Isabel / Pasquier, Florence / Levin, Johannes / Danek, Adrian / Otto, Markus / Sorbi, Sandro / Rohrer, Jonathan D

    Cortex; a journal devoted to the study of the nervous system and behavior

    2022  Volume 150, Page(s) 12–28

    Abstract: Background: Reduced empathy is a common symptom in frontotemporal dementia (FTD). Although empathy deficits have been extensively researched in sporadic cases, few studies have explored the differences in familial forms of FTD.: Methods: Empathy was ... ...

    Abstract Background: Reduced empathy is a common symptom in frontotemporal dementia (FTD). Although empathy deficits have been extensively researched in sporadic cases, few studies have explored the differences in familial forms of FTD.
    Methods: Empathy was examined using a modified version of the Interpersonal Reactivity Index (mIRI) in 676 participants from the Genetic FTD Initiative: 216 mutation-negative controls, 192 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers. Using global scores from the CDR® plus NACC FTLD, mutation carriers were divided into three groups, asymptomatic (0), very mildly symptomatic/prodromal (.5), or fully symptomatic (1 or more). The mIRI Total score, as well as the subscores of Empathic Concern (EC) and Perspective Taking (PT) were assessed. Linear regression models with bootstrapping were used to assess empathy ratings across genetic groups, as well as across phenotypes in the symptomatic carriers. Neural correlates of empathy deficits were examined using a voxel-based morphometry (VBM) analysis.
    Results: All fully symptomatic groups scored lower on the mIRI Total, EC, and PT when compared to controls and their asymptomatic or prodromal counterparts (all p < .001). Prodromal C9orf72 expansion carriers also scored significantly lower than controls on the mIRI Total score (p = .046). In the phenotype analysis, all groups (behavioural variant FTD, primary progressive aphasia and FTD with amyotrophic lateral sclerosis) scored significantly lower than controls (all p < .007). VBM revealed an overlapping neural correlate of the mIRI Total score across genetic groups in the orbitofrontal lobe but with additional involvement in the temporal lobe, insula and basal ganglia in both the GRN and MAPT groups, and uniquely more posterior regions such as the parietal lobe and thalamus in the GRN group, and medial temporal structures in the MAPT group.
    Conclusions: Significant empathy deficits present in genetic FTD, particularly in symptomatic individuals and those with a bvFTD phenotype, while prodromal deficits are only seen using the mIRI in C9orf72 expansion carriers.
    MeSH term(s) C9orf72 Protein/genetics ; Empathy ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/genetics ; Humans ; Mutation ; Pick Disease of the Brain ; Progranulins/genetics ; tau Proteins/genetics
    Chemical Substances C9orf72 Protein ; Progranulins ; tau Proteins
    Language English
    Publishing date 2022-02-09
    Publishing country Italy
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 280622-8
    ISSN 1973-8102 ; 0010-9452
    ISSN (online) 1973-8102
    ISSN 0010-9452
    DOI 10.1016/j.cortex.2022.01.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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