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Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort.

  • Heuer, Hilary W
  • Wang, P
  • Rascovsky, K
  • Wolf, A
  • Appleby, B
  • Bove, J
  • Bordelon, Y
  • Brannelly, P
  • Brushaber, DE
  • Caso, C
  • Coppola, G
  • Dickerson, B
  • Dickinson, S
  • Domoto-Reilly, K
  • Faber, K
  • Ferrall, J
  • Fields, J
  • Fishman, A
  • Fong, J
  • Foroud, T
  • And 58 more
Publication Date
Jan 01, 2020
eScholarship - University of California
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INTRODUCTION:Behavioral variant frontotemporal dementia (bvFTD) may present sporadically or due to an autosomal dominant mutation. Characterization of both forms will improve understanding of the generalizability of assessments and treatments. METHODS:A total of 135 sporadic (s-bvFTD; mean age 63.3 years; 34% female) and 99 familial (f-bvFTD; mean age 59.9; 48% female) bvFTD participants were identified. f-bvFTD cases included 43 with known or presumed chromosome 9 open reading frame 72 (C9orf72) gene expansions, 28 with known or presumed microtubule-associated protein tau (MAPT) mutations, 14 with known progranulin (GRN) mutations, and 14 with a strong family history of FTD but no identified mutation. RESULTS:Participants with f-bvFTD were younger and had earlier age at onset. s-bvFTD had higher total Neuropsychiatric Inventory Questionnaire (NPI-Q) scores due to more frequent endorsement of depression and irritability. DISCUSSION:f-bvFTD and s-bvFTD cases are clinically similar, suggesting the generalizability of novel biomarkers, therapies, and clinical tools developed in either form to the other.

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