Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
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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, Genetic FTD Initiative (GENFI)
Аннотация
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.