Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset.
Aged
Atrophy
Behavioral Symptoms
/ diagnosis
Brain
/ diagnostic imaging
Disease Progression
Epigenesis, Genetic
Female
Frontotemporal Dementia
/ diagnosis
Humans
Magnetic Resonance Imaging
/ methods
Mutation
Neuroimaging
/ methods
Neuropsychological Tests
Progranulins
/ genetics
Tomography, X-Ray Computed
/ methods
Twins, Monozygotic
Age at onset
atrophy
cerebrospinal fluid
frontotemporal dementia
progranulin (GRN)
twins
Journal
Journal of Alzheimer's disease : JAD
ISSN: 1875-8908
Titre abrégé: J Alzheimers Dis
Pays: Netherlands
ID NLM: 9814863
Informations de publication
Date de publication:
2019
2019
Historique:
pubmed:
29
1
2019
medline:
28
5
2020
entrez:
29
1
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30689572
pii: JAD180723
doi: 10.3233/JAD-180723
doi:
Substances chimiques
GRN protein, human
0
Progranulins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM