Neurodegenerative diseases

Since 2009, the CIHATA has developed along with the Clínica de Memoria y Envejecimiento (Memory and Aging Clinic in English) of the San Juan de Dios Hospital, a series of research and community social action projects to provide knowledge in the early diagnosis of neurodegenerative diseases by using tools such as biological and molecular markers plus markers of clinical evaluation protocols.
The development of this field has become established by working with public institutions in the health sector as well as with organizations and foundations such as the Asociación Costarricense de Alzheimer y Otras Demencias Asociadas or ASCADA (Costa Rican Association of Alzheimer's and Other Associated Dementias in English). At an international level, alliances have been established with renowned centers such as the Emory University Hospital in Atlanta, Georgia, United States, and the Laboratorio de Biología Molecular del FLENI (FLENI Molecular Biology Laboratory in English), Buenos Aires, Argentina. Also, with the support of the Confederación Multidisciplinaria Centroamericana de Demencia Alzheimer y Otras Demencias Afines or COMCAEDA (Central American Multidisciplinary Confederation of Alzheimer's Dementia and Other Related Dementias in English), professionals have been trained in the area in both the national and Central American levels to promote the creation of more memory centers specialized in the early diagnosis of neurodegenerative diseases.
The study line on neurodegenerative diseases aims to offer Costa Rican and regional patients updated diagnostic and therapeutic methods through applied research.

Projects list

Prevalence of Biomarkers in Cerebrospinal Fluid (Aß-42, T-TAU, and P-TAU) Used in the Early Diagnosis of Alzheimer's Disease and Other Dementias.

The main objective of the project is to determine the prevalence of alterations in biomarkers in the cerebrospinal fluid (CSF) in the population treated at the Department of Neurology in the Clínica de Memoria y Envejecimiento (Memory and Aging Clinic in English) of the San Juan de Dios Hospital. The aforementioned allows analyzing these biomarkers and the clinical management of patients with amnestic-type mild cognitive impairment. In this way, as a final product, this project seeks to establish a protocol for the early diagnosis of Alzheimer's disease (AD) in the phase of mild cognitive impairment.

Determination of Genetic Factors Related to Movement Disorders and Cognitive Impairment in Patients Diagnosed with Early-onset Parkinson's Disease.

The purpose of this project is to describe the clinically relevant genetic variants associated with movement disorders and cognitive impairment in patients under 50 years of age diagnosed with early-onset Parkinson's disease treated at the Clinic of Parkinson of the San Juan de Dios Hospital. With this, it is expected to provide a support tool in the clinical approach to the patient, understanding the relationship between these genetic variants and the severity of movement disorders and cognitive impairment.

Determination of Genetic Factors by Re-sequencing Directed at 99 Genes Related to Movement Disorders and Dementia in Patients Diagnosed with Parkinson's Disease at the San Juan de Dios Hospital from 2019 to 2022.

Parkinson's disease (PD) is considered the second most prevalent neurodegenerative disease in the elderly population, after Alzheimer's disease, with a global incidence of 9 to 19 cases per 100,000 person-years, and a global prevalence of 100 and 200 cases per 100,000 inhabitants (Solís & Araneda, 2017). PD is characterized by a partial or total loss of motor, speech, behavior, cognitive, and affective skills and other vital functions that lead to disability (Zhang et al., 2016). The diagnosis is generally made through the clinical characteristics of bradykinesia (slowness of movement) in association with tremor, rigidity, postural instability, and gait impairment, among others. In addition, 60% of patients present additional symptoms consisting of autonomic and sensory alterations and cognitive and behavioral difficulties. Several studies have focused on the characterization of PD from the clinical, sociodemographic, genetic, and environmental points of view. The identification of families with parkinsonian syndromes, following the classical Mendelian inheritance, has found relevant loci and mutations designated for various types of hereditary PD. Nowadays, there is strong evidence that links seven genes to hereditary PD which are SNCA, DJ-1, LRRK2, Parkin, PINK1, ATP13A2, and GBA (Lill et al., 2016). It is important to emphasize that reported mutations in PARK1, PARK2, PARK6, and PARK7 explain up to 5% of all PD cases. PARK8 or LRRK2 explains from 2% to 7% of all PD cases worldwide. Applications of next generation sequencing (NGS) technologies are important when clinical and genetic heterogeneity of conditional hereditary factors, unusual mutations, and lack of clinical-genetic specifics are found (Lohmann & Klein, 2014). Genome-wide association studies (GWAS) have found more than 25 genetic risk factors and at least 15 loci directly associated with Parkinson's disease. The approach of multiple genes through NGS in molecular research is favorable due to its sensitivity, speed, reliability, and economic accessibility compared to the classic Sanger sequencing technologies. The simultaneous processing capacity decreases processing times and allows the detection of a large number of genetic variants by in vitro diagnosis (Gorostidi et al., 2016). For this reason, it can be stated that the main objective of this project is to determine the genetic factors by re-sequencing directed at 99 genes related to movement disorders and dementia in patients diagnosed with Parkinson's disease at the San Juan de Dios Hospital from 2019 to 2022.