Monozygotic Twins with Frontotemporal Dementia Due to Thr272fs GRN Mutation Discordant for Age at Onset

Giorgio Giulio Fumagalli, Luca Sacchi, Paola Basilico, Andrea Arighi, Tiziana Carandini, Marta Scarioni, Annalisa Colombi, Anna Pietroboni, Laura Ghezzi, Chiara Fenoglio, Maria Serpente, Marianna D'Anca, Marina Arcaro, Matteo Mercurio, Fabio Triulzi, Elisa Scola, Giorgio Marotta, Elio Scarpini, Daniela Galimberti

Research output: Contribution to journalArticlepeer-review


We report the case of two monozygotic twins with Thr272fs mutation in progranulin gene. Both patients developed frontotemporal dementia with 5 years difference in age at onset (Twin 1:73 years, Twin 2:68 years), with early behavioral, language, dysexecutive, and memory problems. They had the same formal education (5 years), but while Twin 1 dedicated more to social and leisure activity, Twin 2 worked all her life. At neuroimaging (MRI for Twin 1 and CT for Twin 2), they both showed asymmetric atrophy with left predominance. The two were discordant for total tau levels in cerebrospinal fluid, neuropsychological testing, and smoking habits. The description of the twins can help identify environmental factors that influence the onset and phenotype of frontotemporal dementia.

Original languageEnglish
Pages (from-to)1173-1179
Number of pages7
JournalJournal of Alzheimer's Disease
Issue number4
Publication statusPublished - Jan 1 2019


  • Age at onset
  • atrophy
  • cerebrospinal fluid
  • frontotemporal dementia
  • progranulin (GRN)
  • twins

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health


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