Browsing by Author "MacDougall, Amy M."
Now showing 1 - 2 of 2
Results Per Page
Sort Options
- Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementiaPublication . 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 RosarioINTRODUCTION: 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 impairment in the genetic forms of behavioural variant frontotemporal dementiaPublication . On Behalf of the Genetic FTD Initiative (GENFI); 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.; Nelson, Annabel; Thomas, David L.; Todd, Emily; Benotmane, Hanya; Nicholas, Jennifer; Shafei, Rachelle; Timberlake, Carolyn; Cope, Thomas; Rittman, Timothy; Benussi, Alberto; Premi, Enrico; Gasparotti, Roberto; Archetti, Silvana; Maruta, Carolina; do Couto, Frederico SimõesBackground: 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.