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Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia
Stefano Gazzina, Mario Grassi, Enrico Premi, Antonella Alberici, Alberto Benussi, Silvana Archetti, Roberto Gasparotti, Martina Bocchetta et al.. Neurobiology of aging, 2022-02-26
Topic: Brain imaging, connectivity and assessment
Frontotemporal dementia associated with granulin (GRN) mutations presents asymmetric brain atrophy. We applied a Minimum Spanning Tree plus an Efficiency Cost Optimization approach to cortical thickness data in order to test whether graph theory measures could identify global or local impairment of connectivity in the presymptomatic phase of pathology, where other techniques failed in demonstrating changes. We included 52 symptomatic GRN mutation carriers (SC), 161 presymptomatic GRN mutation carriers (PSC) and 341 non-carriers relatives from the Genetic Frontotemporal dementia research Initiative cohort. Group differences of global, nodal and edge connectivity in (Minimum Spanning Tree plus an Efficiency Cost Optimization) graph were tested via Structural Equation Models. Global graph perturbation was selectively impaired in SC compared to non-carriers, with no changes in PSC. At the local level, only SC exhibited perturbation of frontotemporal nodes, but edge connectivity revealed a characteristic pattern of interhemispheric disconnection, involving homologous parietal regions, in PSC. Our results suggest that GRN-related frontotemporal dementia resembles a disconnection syndrome, with interhemispheric disconnection between parietal regions in presymptomatic phases that progresses to frontotemporal areas as symptoms emerge.
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APA 7th
Gazzina, S., Grassi, M., Premi, E., Alberici, A., Benussi, A., Archetti, S., et al. (2022). Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2022.02.009
Vancouver
Gazzina S, Grassi M, Premi E, Alberici A, Benussi A, Archetti S, et al. Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia. Neurobiology of aging. 2022. doi:10.1016/j.neurobiolaging.2022.02.009. PMID: 35339292.
BibTeX
@article{gazzina2022-35339292,
author = {Gazzina, Stefano and Grassi, Mario and Premi, Enrico and Alberici, Antonella and Benussi, Alberto and Archetti, Silvana and Gasparotti, Roberto and Bocchetta, Martina and others},
title = {{Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia}},
journal = {Neurobiology of aging},
year = {2022},
doi = {10.1016/j.neurobiolaging.2022.02.009},
pmid = {35339292},
url = {https://doi.org/10.1016/j.neurobiolaging.2022.02.009}
}
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Key findings
- Frontotemporal dementia associated with granulin (GRN) mutations presents asymmetric brain atrophy.
- Global graph perturbation was selectively impaired in SC compared to non-carriers, with no changes in PSC.
- At the local level, only SC exhibited perturbation of frontotemporal nodes, but edge connectivity revealed a characteristic pattern of interhemispheric disconnection, involving homologous parietal regions, in PSC.
- Our results suggest that GRN-related frontotemporal dementia resembles a disconnection syndrome, with interhemispheric disconnection between parietal regions in presymptomatic phases that progresses to frontotemporal areas as symptoms emerge.
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Study details
- Participants52
- Evidence strengthModerate
How this study scored 52/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 29 of the 56 points we could judge it on, which is 52 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2022 — within 6 year(s) of the newest study here |
| Sample size | 1 / 4 | 52 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 35339292) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 29 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 29 of the 56 points we could judge it on is 52 out of 100. |
| Total | 52 / 100 | — |
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