A5082368429- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- 14-3-3 protein interactions
- Cholinesterase and Neurodegenerative Diseases
- Genetic Associations and Epidemiology
- Biological Research and Disease Studies
- Folate and B Vitamins Research
- Prion Diseases and Protein Misfolding
- Genetics, Bioinformatics, and Biomedical Research
- Genomics and Rare Diseases
- Chronic Disease Management Strategies
- Tryptophan and brain disorders
- Stroke Rehabilitation and Recovery
- Neurological Disorders and Treatments
- Nutritional Studies and Diet
- Obsessive-Compulsive Spectrum Disorders
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Health Systems, Economic Evaluations, Quality of Life
Hospital Universitario Infanta Leonor
2019-2024
Hospital Clínico San Carlos
2009-2010
Hospital Universitario HM Madrid
2006
We describe the clinical phenotype of nine kindred with presenile Alzheimer's disease (AD) caused by different presenilin 1 (PS1) point mutations, and compare them reported families mutations in same codons. Mutations were exon 4 (Ph
Biomarker-informed criteria were proposed for the diagnosis of Alzheimer's disease (AD) by National Institute on Aging and Association (NIA-AA) in 2011; however, adequacy this has not been sufficiently evaluated.
Mild cognitive impairment (MCI) among an aging global population is a growing challenge for healthcare providers and payers. In many cases, MCI ominous portent dementia. Early accurate diagnosis of provides window opportunity to improve the outcomes using personalized care plan including lifestyle modifications reduce impact modifiable risk factors (for example, blood pressure control increased physical activity), training, dietary advice, nutritional support. Souvenaid once-daily drink...
Variability of age at onset (AO) Alzheimer disease (AD) among members the same family is important as a biological clue and because its clinical effects.To evaluate which variables influence discrepancy in AO affected relatives with familial AD.Clinical genetic project Spanish kindred AD conducted by 4 academic hospitals Madrid, Spain.Age 162 families intragenerational intergenerational pairs were analyzed relation to age, sex, maternal or paternal transmission, pattern inheritance,...
Mutations in the presenilin 1 (PSEN1) gene are most common cause of autosomal dominant presenile familial Alzheimer's disease (AD). Reports phenotypic heterogeneity associated with different mutations have focused on variation age at onset limited clinical data. In context a clinical-genetic study Spanish families AD we localized an extended pedigree caused by H163R PSEN1 mutation. We describe phenotype this kindred. Four affected probands (three women and one man) been examined. They belong...
The GENODEM project is a research program that collects clinical–genetic information and DNA samples of Spanish kindred with familial AD. In previous analysis we found wide discrepancy in age at onset within affected siblings (0–20 yrs) independent sex the individuals, slightly influenced by age, significantly lower maternal transmission disease. Herein, analyze whether ApoE genotype can explain differences disease because its importance as modulating gene impact clinical settings. To...
Mutations in the presenilin 1 (PSEN1) gene are most common cause of autosomal dominant presenile familial Alzheimer's disease (AD). In context a prospective clinical-genetic study Spanish families with AD we have found eight different PSEN mutations including two novel ones. We describe clinical phenotype this series families. Fourteen affected individuals (twelve women and men) been studied information from ancestors has provided by relatives. Seven (Pro117Arg, His163Arg, Leu226Phe,...