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Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.

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Collaborators (109)

Author information

Affiliations

  • 1. Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
      Authors
    • Samra K 1
    • Bouzigues A 1
    • Bocchetta M 1
    • Cash DM 1
    • Greaves CV 1
    • Convery RS 1
    • Rohrer JD 1
    • Russell LL 1
    (8 authors)
  • 2. Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.
      Authors
    • MacDougall AM 2
    • Contributors
      Nicholas J 2
    (2 authors)
  • 3. Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
      Authors
    • van Swieten JC 3
    • Jiskoot L 3
    • Seelaar H 3
    (3 authors)
  • 4. Cognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain; Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.
      Authors
    • Moreno F 4
    (1 author)
  • 5. Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.
      Authors
    • Sanchez-Valle R 5
    (1 author)
    • Show all (26)

ORCIDs linked to this article

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Journal of the Neurological Sciences, 10 Jun 2023, 451:120711
https://doi.org/10.1016/j.jns.2023.120711 PMID: 37348248 

Abstract 

Objective

To identify whether language impairment exists presymptomatically in genetic frontotemporal dementia (FTD), and if so, the key differences between the main genetic mutation groups.

Methods

682 participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 290 asymptomatic and 82 prodromal mutation carriers (with C9orf72, GRN, and MAPT mutations) as well as 310 mutation-negative controls. Language was assessed using items from the Progressive Aphasia Severity Scale, as well as the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency task. Participants also underwent a 3 T volumetric T1-weighted MRI from which regional brain volumes within the language network were derived and compared between the groups.

Results

3% of asymptomatic (4% C9orf72, 4% GRN, 2% MAPT) and 48% of prodromal (46% C9orf72, 42% GRN, 64% MAPT) mutation carriers had impairment in at least one language symptom compared with 13% of controls. In prodromal mutation carriers significantly impaired word retrieval was seen in all three genetic groups whilst significantly impaired grammar/syntax and decreased fluency was seen only in C9orf72 and GRN mutation carriers, and impaired articulation only in the C9orf72 group. Prodromal MAPT mutation carriers had significant impairment on the category fluency task and the BNT whilst prodromal C9orf72 mutation carriers were impaired on the category fluency task only. Atrophy in the dominant perisylvian language regions differed between groups, with earlier, more widespread volume loss in C9orf72, and later focal atrophy in the temporal lobe in MAPT mutation carriers.

Conclusions

Language deficits exist in the prodromal but not asymptomatic stages of genetic FTD across all three genetic groups. Improved understanding of the language phenotype prior to phenoconversion to fully symptomatic FTD will help develop outcome measures for future presymptomatic trials.

Full text links 

Read article at publisher's site: https://doi.org/10.1016/j.jns.2023.120711

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Funding 

Funders who supported this work.

Medical Research Council (3)

Wellcome Trust (1)