Resumen
Background: Frontotemporal dementia (FTD) usually appears in the pre senile age, with important implications both in familiar and social. Its etiology is described as polygenic or multifactorial, with some cases having familial aggregation and different genes involved, particularly de MAPT and Progranulin.
Methods: Our interdisciplinary team studied 44 Colombian patients with FTD consensus diagnosis and analyzed variables as gender, clinical and functional profiles, Instrumental Activities of Daily Living (IADL) and genetic studies (DNA analysis) sequencing MAPT gene Exon 10 in 34 patients with MegaBace Amersham genetic tool, and sequence analysis with the Chromas lite software.
Results: DFT subtypes were distributed in 22 FTD frontal variant, 13 with Primary progressive aphasia, 7 with semantic dementia and 2 Dementias with DFT features with sub threshold diagnosis. 22 of the patients were men (50%) with mean age 63 (range 42-83), had a higher education level (16.73 ± 4.11 vs. 12.27 ± 5.54, p = 0.004) and higher levels in MMSE (23.33 ± 6.64 vs. 17.64 ± 9.33, p = 0.026). Women had better statistical significant functional capacities previous to the diagnosis that were rapidly lost during the course of the disease. Executive functions (EF) as “money use” and “medication adherence” declined in all our sample with FTD diagnosis. Others such as “preparing food” or “housekeeping”, declined significantly in women while men seemed to increase these particular AIDL. Six patients had an association with rs3744460 polymorphism, and no mutations for this exon were found in this study.
Conclusions: EFS are compromised in DFT patients. Gender differences argue for an important cultural influence in behavioral symptoms and outcome. These findings urges for new methodological approaches to measure changes in functional outcome and preserving some of the AIDL in these sample. EF are compromised in DFT patients, some with gender differences, making clear a cultural influence in the disease manifestations and a search for new research with different methodological approaches that helps us measure functional changes and preservation of AIDL. No mutations in Exon 10 were found for the MAPT gene. In further analysis of sample and variables should give us new clinical information associated with the disease.
Methods: Our interdisciplinary team studied 44 Colombian patients with FTD consensus diagnosis and analyzed variables as gender, clinical and functional profiles, Instrumental Activities of Daily Living (IADL) and genetic studies (DNA analysis) sequencing MAPT gene Exon 10 in 34 patients with MegaBace Amersham genetic tool, and sequence analysis with the Chromas lite software.
Results: DFT subtypes were distributed in 22 FTD frontal variant, 13 with Primary progressive aphasia, 7 with semantic dementia and 2 Dementias with DFT features with sub threshold diagnosis. 22 of the patients were men (50%) with mean age 63 (range 42-83), had a higher education level (16.73 ± 4.11 vs. 12.27 ± 5.54, p = 0.004) and higher levels in MMSE (23.33 ± 6.64 vs. 17.64 ± 9.33, p = 0.026). Women had better statistical significant functional capacities previous to the diagnosis that were rapidly lost during the course of the disease. Executive functions (EF) as “money use” and “medication adherence” declined in all our sample with FTD diagnosis. Others such as “preparing food” or “housekeeping”, declined significantly in women while men seemed to increase these particular AIDL. Six patients had an association with rs3744460 polymorphism, and no mutations for this exon were found in this study.
Conclusions: EFS are compromised in DFT patients. Gender differences argue for an important cultural influence in behavioral symptoms and outcome. These findings urges for new methodological approaches to measure changes in functional outcome and preserving some of the AIDL in these sample. EF are compromised in DFT patients, some with gender differences, making clear a cultural influence in the disease manifestations and a search for new research with different methodological approaches that helps us measure functional changes and preservation of AIDL. No mutations in Exon 10 were found for the MAPT gene. In further analysis of sample and variables should give us new clinical information associated with the disease.
| Idioma original | Inglés |
|---|---|
| Número de artículo | P2-399 |
| Publicación | Alzheimer's and Dementia |
| DOI | |
| Estado | Publicada - jul. 2011 |