BMC Neurology (Dec 2022)

Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study

  • Hernando Santamaría-García,
  • Natalia Ogonowsky,
  • Sandra Baez,
  • Nicole Palacio,
  • Pablo Reyes,
  • Michael Schulte,
  • Andrea López,
  • Diana Matallana,
  • Agustín Ibanez

DOI
https://doi.org/10.1186/s12883-022-02954-1
Journal volume & issue
Vol. 22, no. 1
pp. 1 – 23

Abstract

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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.

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