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Percorrer por autor "Swieten, John C. van"

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  • Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia
    Publication . Genetic FTD Initiative (GENFI); Samra, Kiran; Peakman, Georgia; MacDougall, Amy M.; Bouzigues, Arabella; Greaves, Caroline V.; Convery, Rhian S.; Swieten, John C. van; 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; Mendonça, Alexandre de; 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.; Bocchetta, Martina; Cash, David; Thomas, David L.; Cope, Thomas; Rittman, Timothy; Benussi, Alberto; Premi, Enrico; Gasparotti, Roberto; Archetti, Silvana; Gazzina, Stefano; Cantoni, Valentina; Arighi, Andrea; Maruta, Carolina; do Couto, Frederico Simões; Alves, Patricia; Almeida, Maria Rosario
    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.
    2024-04-01Artigo científico Acesso aberto Ver mais
  • Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results
    Publication . The Genetic Frontotemporal Dementia Initiative (GENFI); Pasternak, Maurice; Mirza, Saira S.; Luciw, Nicholas; Mutsaerts, Henri J. M. M.; Petr, Jan; Thomas, David L.; Cash, David; Bocchetta, Martina; Tartaglia, Maria Carmela; Mitchell, Sara B.; Black, Sandra E.; Freedman, Morris; Tang-Wai, David; Rogaeva, Ekaterina; Russell, Lucy L.; Bouzigues, Arabella; Swieten, John C. van; Jiskoot, Lize C.; Seelaar, Harro; Laforce, Robert; Tiraboschi, Pietro; Borroni, Barbara; Galimberti, Daniela; Rowe, James B.; Graff, Caroline; Finger, Elizabeth; Sorbi, Sandro; Mendonça, Alexandre de; Butler, Chris; Gerhard, Alex; Sanchez-Valle, Raquel; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; Levin, Johannes; Otto, Markus; Santana, Isabel; Strafella, Antonio P.; MacIntosh, Bradley J.; Rohrer, Jonathan D.; Masellis, Mario; Nelson, Annabel; Todd, Emily; Benotmane, Hanya; Nicholas, Jennifer; Samra, Kiran; Couto, Frederico Simões do
    INTRODUCTION: Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers. METHODS: We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 42 C9orf72, 70 GRN, and 31 MAPT presymptomatic carriers and 158 non-carrier controls. Linear mixed effects models assessed perfusion up to 5 years after baseline assessment. RESULTS: Perfusion decline was evident in all three presymptomatic groups in global gray matter. Each group also featured its own regional pattern of hypoperfusion over time, with the left thalamus common to all groups. Frontal lobe regions featured lower perfusion in those who symptomatically converted versus asymptomatic carriers past their expected age of disease onset. DISCUSSION: Cerebral perfusion is a potential biomarker for assessing genetic FTD and its genetic subgroups prior to symptom onset. Highlights: Gray matter perfusion declines in at-risk genetic frontotemporal dementia (FTD). Regional perfusion decline differs between at-risk genetic FTD subgroups. Hypoperfusion in the left thalamus is common across all presymptomatic groups. Converters exhibit greater right frontal hypoperfusion than non-converters past their expected conversion date. Cerebral hypoperfusion is a potential early biomarker of genetic FTD.
    2024Artigo científico Acesso aberto Ver mais