Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

18 Citazioni (Scopus)

Abstract

A (GGGGCC)n repeat expansion in C9orf72 gene is the major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The relations between the repeats size and the age at disease onset (AO) or the clinical phenotype (FTD vs. ALS) were investigated in 125 FTD, ALS, and presymptomatic carriers. Positive correlations were found between repeats number and the AO (p < 10e−4) but our results suggested that the association was mainly driven by age at collection (p < 10e−4). A weaker association was observed with clinical presentation (p = 0.02), which became nonsignificant after adjustment for the age at collection in each group. Importantly, repeats number variably expanded or contracted over time in carriers with multiple blood samples, as well as through generations in parent-offspring pairs, conversely to what occurs in several expansion diseases with anticipation at the molecular level. Finally, this study establishes that measure of repeats number in lymphocytes is not a reliable biomarker predictive of the AO or disease outcome in C9orf72 long expansion carriers.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaNeurobiology of Aging
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • Aging
  • Amyotrophic Lateral sclerosis
  • Anticipation
  • C9orf72
  • Developmental Biology
  • Frontotemporal dementia
  • Frontotemporal lobar degeneration
  • Geriatrics and Gerontology
  • Neurology (clinical)
  • Neuroscience (all)
  • TDP-43

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