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Authors: Piaceri, Irene | Raspanti, Beatrice | Tedde, Andrea | Bagnoli, Silvia | Sorbi, Sandro | Nacmias, Benedetta

Article Type: Short Communication

Abstract: Alzheimer's disease (AD) is a multifactorial disorder induced by a combination of genetic and environmental factors, and epigenetic modifications could be the key to understand the pathogenesis of AD. We performed a methylation study of the promoter regions of the three AD principal causative genes in 60 late-onset AD patients and 60 controls. The studied regions in the three causative genes were strongly unmethylated in both groups, but in AD patients the methylation resulted significantly increased. Our study adds new insights to previous ones by showing the involvement of epigenetic changes in AD, which influence the pathogenesis of the disease.

Keywords: Alzheimer's disease, AβPP, DNA methylation, epigenetics, PSEN1, PSEN2

DOI: 10.3233/JAD-141452

Citation: Journal of Alzheimer's Disease, vol. 43, no. 4, pp. 1169-1173, 2015

Authors: Nacmias, Benedetta | Tedde, Andrea | Bagnoli, Silvia | Cellini, Elena | Guarnieri, Bianca Maria | Piacentini, Silvia | Sorbi, Sandro

Article Type: Short Communication

Abstract: A common polymorphism (rs2373115) in the GRB-associated binding protein 2 (GAB2) gene has been recently associated with the risk of developing Alzheimer's disease (AD) in 644 apolipoprotein E (ApoE) ε4 carriers. In order to assess the involvement of the GAB2 polymorphism in the risk of developing AD, we analyzed the genotype and allele distributions of the GAB2 rs2373115 polymorphism in 579 Italian subjects. Our results support a possible implication of GAB2 genetic variant in AD. However, the observed association was confined to ApoE ε4 non-carriers, thus suggesting a possible role of GAB2 as an independent risk factor for AD.

Keywords: Alzheimer's disease, apolipoprotein E, genetic determinant, GRB-associated binding protein 2

DOI: 10.3233/JAD-2009-1005

Citation: Journal of Alzheimer's Disease, vol. 16, no. 3, pp. 513-515, 2009

Authors: Tedde, Andrea | Piaceri, Irene | Bagnoli, Silvia | Lucenteforte, Ersilia | Piacentini, Silvia | Sorbi, Sandro | Nacmias, Benedetta

Article Type: Short Communication

Abstract: Apoptosis is correlated with various forms of dementia. Death-associated protein kinase 1 (DAPK1) plays an important role in neuronal apoptosis and could influence the pathology of late-onset Alzheimer's disease (LOAD) and frontotemporal dementia (FTD). It has been reported that two common polymorphisms (rs4878104 and rs4877365) are associated with LOAD, thus we examined the genotype and allele distributions of the above polymorphisms in 681 Italian subjects, including patients with LOAD and FTD. We showed a positive association between rs4878104 and FTD, suggesting a possible implication of the DAPK1 genetic variant in the susceptibility to FTD.

Keywords: Alzheimer's disease, DAPK1, frontotemporal dementia, SNP

DOI: 10.3233/JAD-2012-120556

Citation: Journal of Alzheimer's Disease, vol. 32, no. 1, pp. 13-17, 2012

Authors: Piaceri, Irene | Bagnoli, Silvia | Lucenteforte, Ersilia | Mancuso, Michelangelo | Tedde, Andrea | Siciliano, Gabriele | Piacentini, Silvia | Bracco, Laura | Sorbi, Sandro | Nacmias, Benedetta

Article Type: Short Communication

Abstract: A common polymorphism (rs3851179) in the PICALM (phosphatidylinositol-binding clathrin assembly protein) gene has been recently associated with reduced risk of developing late-onset Alzheimer's disease (LOAD). We analyzed the genotype and allele distributions of the PICALM polymorphism in 813 Italian subjects, including LOAD patients and centenarians. The segregation of the PICALM rs3851179 showed no statistically significant difference between LOAD cases and controls. The implication of a genetic variant at PICALM is confirmed for the first time, in centenarians, thus suggesting a possible role in longevity.

Keywords: Alzheimer's disease, apolipoprotein E, centenarian, genetic variation, PICALM

DOI: 10.3233/JAD-2011-101791

Citation: Journal of Alzheimer's Disease, vol. 24, no. 3, pp. 409-413, 2011

Authors: Cozza, Arianna | Melissari, Erika | Iacopetti, Paola | Mariotti, Veronica | Tedde, Andrea | Nacmias, Benedetta | Conte, Angela | Sorbi, Sandro | Pellegrini, Silvia

Article Type: Research Article

Abstract: Increasing evidence suggests a role for nerve growth factor (NGFB), brain-derived neurotrophic factor (BDNF), and their receptors, nerve growth factor receptor (NGFR), and neurotrophin tyrosine kinase receptors 1 and 2 (NTRK1 and NTRK2), in Alzheimer's disease (AD). However, genetic association between the neurotrophin system genes and AD has been poorly investigated. We genotyped 21 single nucleotide polymorphisms (SNPs) within these genes in a population of Italian AD patients and healthy controls. We found an allele-wise association of rs2072446 on NGFR with familial AD (fAD, p = 0.047), and a genotype-wise association of rs2289656 on NTRK2 with sporadic AD (sAD, p …= 0.0036). rs6336 on NTRK1 resulted associated to early-onset sAD in both allele-wise (p = 0.028) and genotype-wise (p = 0.014) analysis, while rs1048218 on BDNF showed allele-wise association with late-onset sAD (p = 0.047). A trend to association with sAD and/or fAD was observed for other SNPs. Our results suggest that genetic variants of neurotrophin system genes might confer susceptibility to AD. Show more

Keywords: Alzheimer's disease, brain-derived neurotrophic factor, nerve growth factor, nerve growth factor receptor, neurotrophin tyrosine kinase receptor 1, neurotrophin tyrosine kinase receptor 2, single nucleotide polymorphism

DOI: 10.3233/JAD-2008-15105

Citation: Journal of Alzheimer's Disease, vol. 15, no. 1, pp. 61-70, 2008

Authors: Lombardi, Gemma | Berti, Valentina | Tedde, Andrea | Bagnoli, Silvia | Piaceri, Irene | Polito, Cristina | Lucidi, Giulia | Ferrari, Camilla | Ginestroni, Andrea | Moretti, Marco | Pupi, Alberto | Nacmias, Benedetta | Sorbi, Sandro

Article Type: Short Communication

Abstract: According to the literature, the APP Ala713Thr mutation is associated with Alzheimer’s disease and cerebral amyloid angiopathy. We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18 F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal. Further evidences are required to establish if this association is only incidental.

Keywords: APP Ala713Thr, familial Alzheimer’s disease, florbetapir PET, frontotemporal dementia

DOI: 10.3233/JAD-161170

Citation: Journal of Alzheimer's Disease, vol. 57, no. 3, pp. 697-703, 2017

Authors: Piaceri, Irene | Bessi, Valentina | Matà, Sabrina | Polito, Cristina | Tedde, Andrea | Berti, Valentina | Bagnoli, Silvia | Braccia, Arianna | Del Mastio, Monica | Pignone, Alberto Moggi | Pupi, Alberto | Sorbi, Sandro | Nacmias, Benedetta

Article Type: Short Communication

Abstract: A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified: the Tank-binding kinase 1 (TBK1 ) gene. Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD. A point mutation analysis in a cohort of 69 Italian ALS patients was performed in order to analyze the frequency of TBK1 mutations and the correlation with clinical phenotypes. The analysis identified the novel variant p.Tyr424Asp in a patient with a rapid progression of the disease. …Our data supports the implication of TBK1 in ALS pathogenesis in Italy. Show more

Keywords: Amyotrophic lateral sclerosis, genetics, Italy, missense mutation

DOI: 10.3233/JAD-170694

Citation: Journal of Alzheimer's Disease, vol. 61, no. 1, pp. 41-46, 2018

Authors: Magini, Alessandro | Urbanelli, Lorena | Ciccarone, Virginia | Tancini, Brunella | Polidoro, Mario | Timperio, Anna Maria | Zolla, Lello | Tedde, Andrea | Sorbi, Sandro | Emiliani, Carla

Article Type: Research Article

Abstract: In Alzheimer's disease (AD), a major goal is to improve early detection, as the diagnosis cannot be made until patients exhibit a noticeable decline in cognition and the brain is irreversibly damaged. With this aim in mind, we performed proteome analysis of familial AD fibroblasts from both demented and pre-symptomatic subjects, using a 2D-PAGE based approach and then identifying proteins by mass spectrometry. We compared primary fibroblast cultures from skin biopsy of presenilin 1 (PS1) mutated patients, pre-symptomatic subjects carrying mutations in the PS1 gene but healthy at the time of skin biopsy, and age-matched individuals as control. 15 differentially …expressed proteins were identified in PS1 mutated fibroblasts, related to cell adhesion and cytoskeleton, energy and glucose metabolism, stress response and ubiquitin-proteasome system, and signal transduction. Interestingly, many of these proteins have been previously associated with AD and neurodegeneration. Overall results indicated that a unique protein profile can be identified by peripheral cell analysis of PS1 mutated individuals, and showed that fibroblasts are a useful cell model for pathological investigations as well as identification of potential biomarkers for AD diagnosis at early stages. Show more

Keywords: Alzheimer's disease, early markers, proteome analysis, skin fibroblasts

DOI: 10.3233/JAD-2010-091522

Citation: Journal of Alzheimer's Disease, vol. 21, no. 2, pp. 431-444, 2010

Authors: Nacmias, Benedetta | Tedde, Andrea | Bagnoli, Silvia | Lucenteforte, Ersilia | Cellini, Elena | Piaceri, Irene | Guarnieri, Bianca Maria | Bessi, Valentina | Bracco, Laura | Sorbi, Sandro

Article Type: Short Communication

Abstract: A recent study identified a polymorphism (Pro86Leu) in the Calcium homeostasis modulator 1 (CALHM1) gene whose minor Leucine allele showed a higher frequency in Alzheimer's disease (AD) patients compared to controls (29% in AD and 22% in controls). Further studies provided conflicting results in different ethnic groups. In order to assess the involvement of the CALHM1 genetic variant on the risk of developing AD, we analyzed the genotype and allele distributions of the Pro86Leu polymorphism in 758 Italian subjects. Our results did not confirm an association between the CALHM1 variation and AD, thus suggesting a genetic heterogeneity among the various …populations. Show more

Keywords: Alzheimer's disease, apolipoprotein E, calcium homeostasis modulator 1, genetic variation

DOI: 10.3233/JAD-2010-1345

Citation: Journal of Alzheimer's Disease, vol. 20, no. 1, pp. 37-41, 2010

Authors: Piaceri, Irene | Pradella, Silvia | Cupidi, Chiara | Nannucci, Serena | Polito, Cristina | Bagnoli, Silvia | Tedde, Andrea | Smirne, Nicoletta | Anfossi, Maria | Gallo, Maura | Bernardi, Livia | Colao, Rosanna | Maletta, Raffaele | Bruni, Amalia Cecilia | Sorbi, Sandro | Nacmias, Benedetta

Article Type: Research Article

Abstract: Background: Progranulin protein (PGRN) is a cysteine-rich growth factor encoded by the progranulin gene (GRN). PGRN mutations were identified in patients with frontotemporal lobar degeneration (FTLD) and recently its role as risk factor has been described in patients with probable Alzheimer’s disease (AD). To date, more than 100 genetic variants in GRN gene have been described and the pathogenic nature is still unclear for almost 36% of them. Objective: Here, we describe three clinical cases carrying the PGRN variation Cys139Arg in order to increase the knowledge on the association of this variant to the clinical spectrum of FTLD. Methods: The …genetic analysis was performed using high resolution melting analysis. The Human Progranulin ELISA Kit was used in order to determine PGRN expression levels in the plasma samples. Results: The three patients carrying the genetic variation showed three final different clinical diagnosis, respectively behavioral frontotemporal dementia, semantic dementia, and corticobasal syndrome, thus underlining the clinical heterogeneity typically associated with GRN mutations. All cases shared similar plasma PGRN levels that resulted intermediate between those measured in controls and in GRN null mutation carriers, showing a partial reduction of the protein in plasma. Moreover, according to the bioinformatics software, the Cys139Arg variation causes a decreased stability of the structure of the protein. Conclusion: We describe three new patients affected by neurological syndromes included in the clinical spectrum of FTLD carrying the Cys139Arg genetic variant, thus suggesting a possible implication in the pathogenesis of FTLD. Show more

Keywords: Cys139Arg, frontotemporal dementia, mutation, plasma, progranulin

DOI: 10.3233/JAD-132126

Citation: Journal of Alzheimer's Disease, vol. 40, no. 3, pp. 679-685, 2014