Back to Search
Start Over
Language impairment in the genetic forms of behavioural variant frontotemporal dementia
- Source :
- Journal of Neurology, 270(4), 1976-1988. D. Steinkopff-Verlag, on behalf of the Genetic FTD Initiative (GENFI) 2023, ' Language impairment in the genetic forms of behavioural variant frontotemporal dementia ', Journal of Neurology, vol. 270, no. 4, pp. 1976-1988 . https://doi.org/10.1007/s00415-022-11512-1, Journal of neurology, Journal of neurology 270(4), 1976-1988 (2022). doi:10.1007/s00415-022-11512-1
- Publication Year :
- 2023
- Publisher :
- Springer Science and Business Media LLC, 2023.
-
Abstract
- Funder: CIBERNED<br />Funder: Lemaire Family Foundation<br />Funder: Swedish Frontotemporal Dementia Initiative Schorling Foundation<br />Funder: Swedish Alzheimer Foundation<br />Funder: Karolinska Institutet; doi: http://dx.doi.org/10.13039/501100004047<br />Funder: Weston Brain Institute; doi: http://dx.doi.org/10.13039/100012479<br />Funder: Miriam Marks Brain Research UK<br />BACKGROUND: 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.
- Subjects :
- Progranulin
Medizin
genetics [Mutation]
tau Proteins
diagnostic imaging [Frontotemporal Dementia]
frontotemporal dementia
Settore BIO/13 - Biologia Applicata
C9orf72
progranulin
Genetics
Humans
genetics
Language Development Disorders
ddc:610
tau
genetics [Frontotemporal Dementia]
genetics [C9orf72 Protein]
Frontotemporal dementia
Language
Tau
language
C9orf72 Protein
Magnetic Resonance Imaging
genetics [tau Proteins]
Neurology
FOS: Biological sciences
Frontotemporal Dementia
Mutation
Human medicine
Neurology (clinical)
Atrophy
Subjects
Details
- ISSN :
- 10001247 and 03405354
- Database :
- OpenAIRE
- Journal :
- Journal of Neurology, 270(4), 1976-1988. D. Steinkopff-Verlag, on behalf of the Genetic FTD Initiative (GENFI) 2023, ' Language impairment in the genetic forms of behavioural variant frontotemporal dementia ', Journal of Neurology, vol. 270, no. 4, pp. 1976-1988 . https://doi.org/10.1007/s00415-022-11512-1, Journal of neurology, Journal of neurology 270(4), 1976-1988 (2022). doi:10.1007/s00415-022-11512-1
- Accession number :
- edsair.doi.dedup.....35c926432007699f95dcb67832124c5b
- Full Text :
- https://doi.org/10.17863/cam.95146