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.

Monozygotic Twins with Frontotemporal Dementia Due to Thr272fs GRN Mutation Discordant for Age at Onset / 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.. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 67:4(2019), pp. 1173-1179. [10.3233/JAD-180723]

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

Fumagalli G. G.;
2019-01-01

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.
2019
4
Fumagalli, G. G.; Sacchi, L.; Basilico, P.; Arighi, A.; Carandini, T.; Scarioni, M.; Colombi, A.; Pietroboni, A.; Ghezzi, L.; Fenoglio, C.; Serpente, ...espandi
Monozygotic Twins with Frontotemporal Dementia Due to Thr272fs GRN Mutation Discordant for Age at Onset / 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.. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 67:4(2019), pp. 1173-1179. [10.3233/JAD-180723]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11572/355691
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