دورية أكاديمية

Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia

التفاصيل البيبلوغرافية
العنوان: Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia
المؤلفون: 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
سنة النشر: 2024
المجموعة: Universidade Católica Portuguesa: Veritati - Repositório Institucional
مصطلحات موضوعية: C9orf72, Frontotemporal dementia, Genetics, Progranulin, Tau
الوصف: 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. ; info:eu-repo/semantics/publishedVersion
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 2352-8729
العلاقة: http://hdl.handle.net/10400.14/44794Test; 85190408664; PMC11016817
DOI: 10.1002/dad2.12571
الإتاحة: https://doi.org/10.1002/dad2.12571Test
http://hdl.handle.net/10400.14/44794Test
حقوق: openAccess ; http://creativecommons.org/licenses/by-nc/4.0Test/
رقم الانضمام: edsbas.709A0AA0
قاعدة البيانات: BASE
الوصف
تدمد:23528729
DOI:10.1002/dad2.12571