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Fumagalli, Giorgio Giulio; Sacchi, Luca; Basilico, Paola; Arighi, Andrea; Carandini, Tiziana; Scarioni, Marta; Colombi, Annalisa; Pietroboni, Anna; Ghezzi, Laura; Fenoglio, Chiara; Serpente, Maria; D'anca, Marianna; Arcaro, Marina; Mercurio, Matteo; Triulzi, Fabio; Scola, Elisa; Marotta, Giorgio; Scarpini, Elio; Galimberti, Daniela
Journal of Alzheimer's disease, 01/2019, Volume: 67, Issue: 4Journal Article
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.
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