Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations

Medientyp: E-Artikel
Titel: Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations
Beteiligte: 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; [...]
Erschienen: Springer Science and Business Media LLC, 2022
Erschienen in: Journal of Neurology
Sprache: Englisch
DOI: 10.1007/s00415-022-11068-0
ISSN: 0340-5354; 1432-1459
Schlagwörter: Neurology (clinical) ; Neurology
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Beschreibung: <jats:title>Abstract</jats:title><jats:sec> <jats:title>Introduction</jats:title> <jats:p>A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (<jats:italic>MAPT</jats:italic>), chromosome 9 open reading frame 72 (<jats:italic>C9orf72</jats:italic>) and progranulin (<jats:italic>GRN</jats:italic>). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the disease but few have studied naming in detail.</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>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: <jats:italic>C9orf72</jats:italic>, <jats:italic>MAPT</jats:italic> and <jats:italic>GRN</jats:italic>. 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.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>All symptomatic groups performed worse on the BNT than controls with the <jats:italic>MAPT</jats:italic> symptomatic group scoring the worst. Furthermore, <jats:italic>MAPT</jats:italic> asymptomatic and prodromal groups performed significantly worse than controls. Correlates of anomia in <jats:italic>MAPT</jats:italic> mutation carriers included bilateral anterior temporal lobe regions and the anterior insula. Similar bilateral anterior temporal lobe involvement was seen in <jats:italic>C9orf72</jats:italic> mutation carriers as well as more widespread left frontal atrophy. In <jats:italic>GRN</jats:italic> mutation carriers, neural correlates were limited to the left hemisphere, and involved frontal, temporal, insula and striatal regions.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>This study suggests the development of early anomia in <jats:italic>MAPT</jats:italic> mutation carriers, likely to be associated with impaired semantic knowledge. Clinical trials focused on the prodromal period within individuals with <jats:italic>MAPT</jats:italic> mutations should use language tasks, such as the BNT for patient stratification and as outcome measures.</jats:p> </jats:sec>

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