Unidad de Demencia-Fundación Jiménez Díaz
Estrella Gómez Tortosa
MD, Associated Chief Physician
Lab members
Pablo Agüero Rabes, MD
Mª José Sainz Artiga, PhD
Lab contact
Institution
Our projects
The research activity of the group is focused on the study of clinical-genetic correlations and biomarkers in neurodegenerative diseases that manifest themselves as dementias, using extensive cohorts of patients with familial dementias from which DNA, plasma, CSF and fibroblasts are available. Our group has expertise in clinical and neuropsychological assessments, as well as in basic techniques including immunostaining, ELISA procedures, and genetic analyses. Thus, we have described new clinical-genetic correlations, assessed the impact of genetic variants to provide genetic counselling, analyzed the utility of CSF and plasma biomarkers for disease diagnosis, and described new genetic-neuropathological correlations (see publications). Currently, we study the impact of variants of the gene ADAM10 on the activity of alpha-secretase, and on the predisposition to develop late-onset Alzheimer´s disease.
- Project FIS PI20/0469.
- Project Fundación Tatiana Pérez de Guzmán/Neuroscience.
Last publications
Agüero P, Sainz MJ, García-Ayllón MS, Sáez-Valero J, Téllez R, Guerrero-López R, Pérez-Pérez J, Jiménez-Escrig A, Gómez-Tortosa E. a-Secretase nonsense mutación (ADAM10 Tyr167*) in familial Alzheimer’s disease. Alzheimer’ Research & Therapy (2020) 12:139. doi.org/10.1186/s13195-020-00708-0
Esteve P, Rueda-Carrasco J, Mateo M, et al. Elevated levels of Secreted-Frizzled-Related-Protein 1 contribute to Alzheimer’s disease pathogenesis. Nat Neurosci. 22:1258-1268, 2019 doi: 10.1038/s41593-019-0432-1.
Gómez-Tortosa E; Ruggiero M; Agüero P; et al. Clinical experience with plasma progranulin as a biomarker in a dementia cohort. J Alzheimer Dis Parkinsonism. 9 – 4, pp. 1000472. 15/08/2019.
Gómez-Tortosa E, Baradaran-Heravi Y, González Alvarez V, et al. Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation. Neurobiol Aging. 76:214.e11-214.e15, 2019 doi: 10.1016/j.neurobiolaging.2018.11.010.
Gómez-Tortosa E, Ruggiero M, Sainz MJ, et al. SORL1 Variants in Familial Alzheimer’s Disease. J Alzheimers Dis. 4:1275-1281, 2018 doi: 10.3233/JAD-170590.
Gómez-Tortosa E, Van der Zee J, Ruggiero M, et al. Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation. J Neurol Neurosurg Psychiatry. 88:996-997, 2017 doi: 1136/jnnp-2016-315250.
Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S et al. Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion. J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922
Estrella Gómez Tortosa
MD, Associated Chief Physician
Lab members
Pablo Agüero Rabes, MD
Mª José Sainz Artiga, PhD
Lab contact
Institution
Our projects
The research activity of the group is focused on the study of clinical-genetic correlations and biomarkers in neurodegenerative diseases that manifest themselves as dementias, using extensive cohorts of patients with familial dementias from which DNA, plasma, CSF and fibroblasts are available. Our group has expertise in clinical and neuropsychological assessments, as well as in basic techniques including immunostaining, ELISA procedures, and genetic analyses. Thus, we has described new clinical-genetic correlations, assessed the impact of genetic variants to provide genetic counselling, analyzed the utility of CSF and plasma biomarkers for disease diagnosis, and described new genetic-neuropathological correlations (see publications). Currently, we study the impact of variants of the gene ADAM10 on the activity of alpha-secretase, and on the predisposition to develop late-onset Alzheimer´s disease.
- Project FIS PI20/0469.
- Project Fundación Tatiana Pérez de Guzmán/Neuroscience.
Last publications
Agüero P, Sainz MJ, García-Ayllón MS, Sáez-Valero J, Téllez R, Guerrero-López R, Pérez-Pérez J, Jiménez-Escrig A, Gómez-Tortosa E. a-Secretase nonsense mutación (ADAM10 Tyr167*) in familial Alzheimer’s disease. Alzheimer’ Research & Therapy (2020) 12:139. doi.org/10.1186/s13195-020-00708-0
Esteve P, Rueda-Carrasco J, Mateo M, et al. Elevated levels of Secreted-Frizzled-Related-Protein 1 contribute to Alzheimer’s disease pathogenesis. Nat Neurosci. 22:1258-1268, 2019 doi: 10.1038/s41593-019-0432-1.
Gómez-Tortosa E; Ruggiero M; Agüero P; et al. Clinical experience with plasma progranulin as a biomarker in a dementia cohort. J Alzheimer Dis Parkinsonism. 9 – 4, pp. 1000472. 15/08/2019.
Gómez-Tortosa E, Baradaran-Heravi Y, González Alvarez V, et al. Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation. Neurobiol Aging. 76:214.e11-214.e15, 2019 doi: 10.1016/j.neurobiolaging.2018.11.010.
Gómez-Tortosa E, Ruggiero M, Sainz MJ, et al. SORL1 Variants in Familial Alzheimer’s Disease. J Alzheimers Dis. 4:1275-1281, 2018 doi: 10.3233/JAD-170590.
Gómez-Tortosa E, Van der Zee J, Ruggiero M, et al. Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation. J Neurol Neurosurg Psychiatry. 88:996-997, 2017 doi: 1136/jnnp-2016-315250.
Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S et al. Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion. J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922