A5051470597- Genetic Neurodegenerative Diseases
- DNA Repair Mechanisms
- Mitochondrial Function and Pathology
- Forensic and Genetic Research
- Paleopathology and ancient diseases
- Forensic Anthropology and Bioarchaeology Studies
- Genetics and Physical Performance
- Aging, Health, and Disability
- Health, Environment, Cognitive Aging
Instituto Nacional de Ciencias Neurológicas
2021-2023
Instituto Nacional de Neurología y Neurocirugía
2023
Instituto Nacional de Enfermedades Neoplásicas
2021
<h3>Objective:</h3> We have developed an international collaborative research initiative to ascertain a Peruvian cohort for AD and other related dementias genetic studies of Amerindian individuals. <h3>Background:</h3> Peru is one the five largest countries in Latin America harboring high ancestry component this population. The American population, including Peruvians, are underrepresented AD. <h3>Design/Methods:</h3> PeADI was recruit enroll adults aged 65 older comprehensive study....
La enfermedad de Huntington (EH) es una neurodegenerativa hereditaria progresión irremediablemente fatal. Existen otros trastornos con síntomas semejantes a los esta y que son llamados fenocopias. En nuestro reporte, se presentan casos dos hermanos fenotipo compatible EH, uno ellos fenocopia intrafamiliar, caracterizada por un síndrome coreico cambios del comportamiento, estudio genético negativo para EH. El caso índice cursa forma parkinsoniana EH inicio juvenil, evolución lentamente...
Abstract Spinocerebellar ataxia type 3 or Machado-Joseph Disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare institution Peru. In cohort of 341 individuals with clinical diagnosis, seven probands were identified and their pedigrees extended, detecting total 18(5%) cases. Out 682 alleles from this cohort, 23-CAG repeat was common ATXN3 allele (32.1%),...
<h3>Background</h3> Based on heritability analyses, unidentified genetic modifiers explain up to 38% of the remaining variance after accounting for CAG repeat number. We hypothesized that pedigree information can harness unknown increase accuracy age onset prediction <h3>Aims</h3> To assess whether predictive models. <h3>Methods</h3> included 139 unrelated subjects and 81 related individuals from 33 families (total n=220) HD registry Neurogenetics Research Center at Instituto Nacional de...