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 | |
| Publication status | Published - Jan 1 2019 |
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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
Cite this
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
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TY - JOUR
T1 - Monozygotic Twins with Frontotemporal Dementia Due to Thr272fs GRN Mutation Discordant for Age at Onset
AU - Fumagalli, Giorgio Giulio
AU - Sacchi, Luca
AU - Basilico, Paola
AU - Arighi, Andrea
AU - Carandini, Tiziana
AU - Scarioni, Marta
AU - Colombi, Annalisa
AU - Pietroboni, Anna
AU - Ghezzi, Laura
AU - Fenoglio, Chiara
AU - Serpente, Maria
AU - D'Anca, Marianna
AU - Arcaro, Marina
AU - Mercurio, Matteo
AU - Triulzi, Fabio
AU - Scola, Elisa
AU - Marotta, Giorgio
AU - Scarpini, Elio
AU - Galimberti, Daniela
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Age at onset
KW - atrophy
KW - cerebrospinal fluid
KW - frontotemporal dementia
KW - progranulin (GRN)
KW - twins
UR - http://www.scopus.com/inward/record.url?scp=85062026731&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85062026731&partnerID=8YFLogxK
U2 - 10.3233/JAD-180723
DO - 10.3233/JAD-180723
M3 - Article
C2 - 30689572
AN - SCOPUS:85062026731
VL - 67
SP - 1173
EP - 1179
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
SN - 1387-2877
IS - 4
ER -