Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset

Article type: Short Communication

Authors: Fumagalli, Giorgio Giulio^{a; b; c; *} | Sacchi, Luca^{a; b} | Basilico, Paola^{a; b} | Arighi, Andrea^{a; b} | Carandini, Tiziana^{a; b} | Scarioni, Marta^{a; b} | Colombi, Annalisa^{a; b} | Pietroboni, Anna^{a; b} | Ghezzi, Laura^{a; b} | Fenoglio, Chiara^{a; b} | Serpente, Maria^{a; b} | D’anca, Marianna^{a; b} | Arcaro, Marina^{a; b} | Mercurio, Matteo^{a; b} | Triulzi, Fabio^{a; b} | Scola, Elisa^{a; b} | Marotta, Giorgio^b | Scarpini, Elio^{a; b} | Galimberti, Daniela^{a; b}

Affiliations: [a] University of Milan, “Dino Ferrari” Center, Milan, Italy | [b] Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy | [c] Department of Neurosciences, University of Florence, Psychology, Drug Research and Child Health (NEUROFARBA), Florence, Italy

Correspondence: [*] Correspondence to: Giorgio G. Fumagalli, Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Fondazione Ca’ Granda, IRCCS Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy. E-mail: [email protected].

Abstract: 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.

Keywords: Age at onset, atrophy, cerebrospinal fluid, frontotemporal dementia, progranulin (GRN), twins

DOI: 10.3233/JAD-180723

Journal: Journal of Alzheimer's Disease, vol. 67, no. 4, pp. 1173-1179, 2019