Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease
| Autor: | Jordi Clarimón, Giuliano Binetti, Maria Rosário Almeida, Pau Pastor, Daniela Galimberti, Maria Serpente, Ignacio Illán-Gala, Silvia Bagnoli, Raquel Sánchez-Valle, Barbara Borroni, Livia Bernardi, Beatriz De la Casa-Fages, Elio Scarpini, Francisco Grandas, Alberto Lleó, Roberta Ghidoni, Anna Antonell, Sandro Sorbi, Raffaele Maletta, Irene Rosas, Paola Caroppo, Irene Piaceri, Benedetta Nacmias, Carmen Martínez, Monica Diez-Fairen, Victoria Alvarez, Maria Anfossi, Oriol Dols-Icardo, Luisa Benussi, Julie van der Zee, Christine Van Broeckhoven, Raffaele Ferrari, Manuel Menéndez-González, Amalia C. Bruni, Giacomina Rossi |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Aging medicine.medical_specialty ATXN2 gene Genotype CAG repeats Disease Gastroenterology Pathogenesis Cohort Studies 03 medical and health sciences 0302 clinical medicine Progressive nonfluent aphasia Gene Frequency Trinucleotide Repeats C9orf72 Alzheimer Disease Internal medicine mental disorders Medicine Humans Tauopathie Allele Neurodegeneration Ataxin-1 Ataxin-2 Huntingtin Protein C9orf72 Protein business.industry General Neuroscience Parkinson Disease medicine.disease nervous system diseases 030104 developmental biology Frontotemporal Dementia Cohort Intermediate alleles Female Neurology (clinical) Human medicine Geriatrics and Gerontology business Trinucleotide Repeat Expansion 030217 neurology & neurosurgery Developmental Biology Frontotemporal dementia |
| Zdroj: | Neurobiology of aging NEUROBIOLOGY OF AGING r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname |
| ISSN: | 1558-1497 0197-4580 |
| Popis: | We analyzed the frequency of intermediate alleles (IAs) in the ATXN1, ATXN2, and HTT genes in several neurodegenerative diseases. The study included 1126 patients with Alzheimer's disease (AD), 440 patients with frontotemporal dementia (FTD), and 610 patients with Parkinson's disease. In all cohorts, we genotyped ATXN1 and ATXN2 CAG repeats. In addition, in the FTD cohort, we determined the number of HIT CAG repeats. The frequency of HIT IAs was higher in patients with FTD (6.9%) versus controls (2.9%) and in the C9orf72 expansion noncarriers (7.2%) versus controls (2.9%), although the difference was nonsignificant after correction for multiple testing. Compared with controls, progressive nonfluent aphasia (PNFA) groups showed a significantly higher frequency of HTT IAs (13.6% vs. 2.9% controls). For the ATXN2 gene, we observed an increase in IA frequency in AD cases (AD 4.1% vs. controls 1.8%) and in the behavioral FTD group (4.8% vs. 1.8%). For the ATXN1 gene, we found a significant increase of IAs in patients with PNFA (18.6%) versus controls (6.7%). In conclusion, our work suggests that the HTT and ATXN1 IAS may contribute to PNFA pathogenesis and point to a link between ATXN2 IAS and AD. (C) 2019 Elsevier Inc. All rights reserved. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect