Related Experiment Video
Updated: Jan 30, 2026

Using Retinal Imaging to Study Dementia
Published on: November 6, 2017
Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset
Giorgio Giulio Fumagalli1,2,3, Luca Sacchi1,2, Paola Basilico1,2
1University of Milan, "Dino Ferrari" Center, Milan, Italy.
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.
More Related Videos
Related Concept Videos
Dementia
The progression of dementia is generally gradual....
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Viral Mutations
Mutation, Gene Flow, and Genetic Drift
Aging
Cellular Clock Theory
The cellular clock theory posits that the human lifespan is closely tied to the finite capacity of cells to divide, a phenomenon governed by telomeres, which are protective caps at the ends of...

