Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study
Highlights • Different genetic levels in underrepresented FTD patients are not well understood. • We compared cognition, neuropsychiatry, and gene-atrophy overlap in FTD cases. • Mutations (MAPT-TARDBP-TREM2), variants (tau-APOE) & sporadic cases were compared. • FTD genetic level was linked to...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-12-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-022-02954-1 |
| _version_ | 1828278174323048448 |
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| author | Hernando Santamaría-García Natalia Ogonowsky Sandra Baez Nicole Palacio Pablo Reyes Michael Schulte Andrea López Diana Matallana Agustín Ibanez |
| author_facet | Hernando Santamaría-García Natalia Ogonowsky Sandra Baez Nicole Palacio Pablo Reyes Michael Schulte Andrea López Diana Matallana Agustín Ibanez |
| author_sort | Hernando Santamaría-García |
| collection | DOAJ |
| description | Highlights • Different genetic levels in underrepresented FTD patients are not well understood. • We compared cognition, neuropsychiatry, and gene-atrophy overlap in FTD cases. • Mutations (MAPT-TARDBP-TREM2), variants (tau-APOE) & sporadic cases were compared. • FTD genetic level was linked to clinical & neurocognitive changes in case analysis. • Mutations showed more impairments than risk variants and sporadic presentations. |
| first_indexed | 2024-04-13T07:26:27Z |
| format | Article |
| id | doaj.art-05e5829a93054781926cd8cb337dc92a |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-04-13T07:26:27Z |
| publishDate | 2022-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-05e5829a93054781926cd8cb337dc92a2022-12-22T02:56:27ZengBMCBMC Neurology1471-23772022-12-0122112310.1186/s12883-022-02954-1Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases studyHernando Santamaría-García0Natalia Ogonowsky1Sandra Baez2Nicole Palacio3Pablo Reyes4Michael Schulte5Andrea López6Diana Matallana7Agustín Ibanez8PhD program in Neuroscience, Pontificia Universidad JaverianaCONICET & Cognitive Neuroscience Center (CNC), Universidad de San AndrésFaculty of Psychology, Universidad de los AndesIntegrated Program in Neuroscience, McGill UniversityPhD program in Neuroscience, Pontificia Universidad JaverianaCONICET & Cognitive Neuroscience Center (CNC), Universidad de San AndrésPontificia Universidad JaverianaPontificia Universidad JaverianaLatin American Institute for Brain Health (BrainLat), Universidad Adolfo IbanezHighlights • Different genetic levels in underrepresented FTD patients are not well understood. • We compared cognition, neuropsychiatry, and gene-atrophy overlap in FTD cases. • Mutations (MAPT-TARDBP-TREM2), variants (tau-APOE) & sporadic cases were compared. • FTD genetic level was linked to clinical & neurocognitive changes in case analysis. • Mutations showed more impairments than risk variants and sporadic presentations.https://doi.org/10.1186/s12883-022-02954-1MAPTTARDBPTREM2Tau haplotypesAPOE variantsbvFTD |
| spellingShingle | Hernando Santamaría-García Natalia Ogonowsky Sandra Baez Nicole Palacio Pablo Reyes Michael Schulte Andrea López Diana Matallana Agustín Ibanez Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study BMC Neurology MAPT TARDBP TREM2 Tau haplotypes APOE variants bvFTD |
| title | Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_full | Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_fullStr | Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_full_unstemmed | Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_short | Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study |
| title_sort | neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia a multiple single cases study |
| topic | MAPT TARDBP TREM2 Tau haplotypes APOE variants bvFTD |
| url | https://doi.org/10.1186/s12883-022-02954-1 |
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