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

doi:10.3233/JAD-180723

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1173-1179
Number of pages	7
Journal	Journal of Alzheimer's Disease
Volume	67
Issue number	4
DOIs	https://doi.org/10.3233/JAD-180723
Publication status	Published - Jan 1 2019

Keywords

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

Access to Document

10.3233/JAD-180723

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Fumagalli, G. G., Sacchi, L., Basilico, P., Arighi, A., Carandini, T., Scarioni, M., Colombi, A., Pietroboni, A., Ghezzi, L., Fenoglio, C., Serpente, M., D'Anca, M., Arcaro, M., Mercurio, M., Triulzi, F., Scola, E., Marotta, G., Scarpini, E., & Galimberti, D. (2019). Monozygotic Twins with Frontotemporal Dementia Due to Thr272fs GRN Mutation Discordant for Age at Onset. Journal of Alzheimer's Disease, 67(4), 1173-1179. https://doi.org/10.3233/JAD-180723

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

In: Journal of Alzheimer's Disease, Vol. 67, No. 4, 01.01.2019, p. 1173-1179.

Research output: Contribution to journal › Article › peer-review

Fumagalli, GG, Sacchi, L, Basilico, P , Arighi, A, Carandini, T, Scarioni, M, Colombi, A, Pietroboni, A, Ghezzi, L, Fenoglio, C, Serpente, M, D'Anca, M , Arcaro, M , Mercurio, M , Triulzi, F , Scola, E , Marotta, G , Scarpini, E & Galimberti, D 2019, 'Monozygotic Twins with Frontotemporal Dementia Due to Thr272fs GRN Mutation Discordant for Age at Onset', Journal of Alzheimer's Disease, vol. 67, no. 4, pp. 1173-1179. https://doi.org/10.3233/JAD-180723

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. / Monozygotic Twins with Frontotemporal Dementia Due to Thr272fs GRN Mutation Discordant for Age at Onset. In: Journal of Alzheimer's Disease. 2019 ; Vol. 67, No. 4. pp. 1173-1179.

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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.",

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