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Ainhoa Alzualde
Instituto de Salud Carlos III
17Publications
11H-index
713Citations
Publications 17
Newest
#1Haritz Irizar (ISMMS: Icahn School of Medicine at Mount Sinai)H-Index: 8
#2Joaquín Goñi (IU: Indiana University Bloomington)H-Index: 25
Last.David OtaeguiH-Index: 26
view all 7 authors...
Abstract Both cellular senescence and organismic aging are known to be dynamic processes that start early in life and progress constantly during the whole life of the individual. In this work, with the objective of identifying signatures of age-related progressive change at the transcriptomic level, we have performed a whole-genome gene expression analysis of peripheral blood leukocytes in a group of healthy individuals with ages ranging from 14 to 93 years. A set of genes with progressively cha...
1 CitationsSource
We have performed a complete screening of the Parkin gene (PRKN2) and looked for p.Gly2019Ser (G2019S) and p.Arg1441Gly (R1441G) LRRK2/dardarin gene mutations in twenty seven patients with Parkinson’s disease (PD) with an age at onset younger than 50 years (EOPD), living in Gipuzkoa (Basque Country, Spain). Thirteen of them (48%) were PRKN2 mutation carriers. The c.255256DelA mutation was the most frequent, followed by a deletion involving exons 3 and 4. A deletion involving exons 3 and 12 of th...
Source
#1Fermin Moreno (ISCIII: Instituto de Salud Carlos III)H-Index: 13
#2Roser Sala-Llonch (University of Barcelona)H-Index: 24
Last.Begoña Indakoetxea (ISCIII: Instituto de Salud Carlos III)H-Index: 9
view all 12 authors...
Abstract Studies in asymptomatic granulin gene ( GRN ) mutation carriers are essential to improve our understanding of the pattern and timing of early morphologic brain changes in frontotemporal lobar degeneration. The main objectives of this study were to assess the effect of age in cortical thickness changes (CTh) in preclinical GRN mutation carriers and to study the relationship of CTh with cognitive performance in GRN mutation carriers. We calculated CTh maps in 13 asymptomatic carriers of t...
9 CitationsSource
Mutations in the progranulin (PGRN) gene have been identified as a cause of frontotemporal dementia (FTD). However, little is known about the neuropsychological abilities of asymptomatic carriers of these mutations. The aim of the study was to assess cognitive functioning in asymptomatic c.709-1G>A PGRN mutation carriers. We hypothesized that poorer neuropsychological performance could be present before the development of clinically significant FTD symptoms. Thirty-two asymptomatic first-degree ...
11 CitationsSource
#1Carolina Alquézar (CSIC: Spanish National Research Council)H-Index: 5
#2Noemí Esteras (CSIC: Spanish National Research Council)H-Index: 12
Last.Ángeles Martín-Requero (CSIC: Spanish National Research Council)H-Index: 15
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Background Mutations in the progranulin (PGRN) gene, leading to haploinsufficiency, cause familial frontotemporal lobar degeneration (FTLD-TDP), although the pathogenic mechanism of PGRN deficit is largely unknown. Allelic loss of PGRN was previously shown to increase the activity of cyclin-dependent kinase (CDK) CDK6/pRb pathway in lymphoblasts expressing the c.709-1G>A PGRN mutation. Since members of the CDK family appear to play a role in neurodegenerative disorders and in apoptotic death of ...
5 CitationsSource
#1Carolina Alquézar (CSIC: Spanish National Research Council)H-Index: 8
#2Noemí Esteras (CSIC: Spanish National Research Council)H-Index: 12
Last.Ángeles Martín-Requero (CSIC: Spanish National Research Council)H-Index: 15
view all 7 authors...
Frontotemporal lobar degeneration with neuronal inclusions containing TAR DNA binding protein 43 (TDP-43) is associated in most cases with null-mutations in the progranulin gene (PGRN). While the mechanisms by which PGRN haploinsufficiency leads to neurodegeneration remained speculative, increasing evidence support the hypothesis that cell cycle reentry of postmitotic neurons precedes many instances of neuronal death. Based in the mitogenic and neurotrophic activities of PGRN, we hypothesized th...
14 CitationsSource
#1Javier Ruiz-Martínez (ISCIII: Instituto de Salud Carlos III)H-Index: 20
#2Ana GorostidiH-Index: 17
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It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor phase. However, it is not clear what value these tests have in all patients with Parkinson's disease and, particularly, in those who carry mutations in LRRK2. The objective was to analyze olfactory dysfunction and the changes in cardiac I-metaiodobenzylguanidine uptake in patients with Parkinson's disease carrying the R1441G and G2019S mutati...
38 CitationsSource
#1Alice Chen-Plotkin (UPenn: University of Pennsylvania)H-Index: 38
#2Maria Martinez-Lage (UPenn: University of Pennsylvania)H-Index: 23
Last.Vivianna M. Van Deerlin (UPenn: University of Pennsylvania)H-Index: 66
view all 55 authors...
OBJECTIVE: To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD). PARTICIPANTS AND DESIGN: A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-43)-positive inclusions (FTLD-TDP). We identified 97 individuals with FTLD-TDP with pathogenic GRN muta...
78 CitationsSource
Frontotemporal lobar degeneration because of mutations in the progranulin (PGRN) gene presents a high variability both in the clinical phenotype and age of onset of disease. Factors that influence this variability remain largely unknown. The aim of our study was to determine whether selected genetic variables modify age at onset of disease in our series of 21 patients with a single splicing mutation (c.709-1G>A) in the PGRN gene, all of whom were of Basque descent. In our analysis, we included t...
9 CitationsSource
#1Javier Ruiz-Martínez (ISCIII: Instituto de Salud Carlos III)H-Index: 20
#2Ana GorostidiH-Index: 17
view all 10 authors...
Servicio de Neurologi´a, Hospital de Cruces, Barakaldo, Bizkaia, SpainAbstract: The LRRK2 R1441G mutation was first identifiedin Basque families and it is responsible for 46% of familialParkinson’s disease (PD) and for 2.5% of sporadic PD in thePD population of Basque ascent. The aim of this study wasto determine LRRK2 R1441G penetrance in PD in the BasqueCountry (Spain) to help in a more accurate genetic counsel-ing. A total of 59 sibships containing 244 individuals, with atotal of 40 PD-affected...
26 CitationsSource
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