Delay in the diagnosis of Parkinson’s disease in a Chilean public hospital Latencia diagnóstica en la enfermedad de Parkinson. Estudio en 200 pacientes de novo en un hospital público de Chile

© 2015, Sociedad Medica de Santiago. All rights reserved. Background: Early diagnosis is fundamental in patients with Parkinson’s disease (PD) to improve their quality of life. Aim: To determine the latency in the diagnosis of Parkinson’s disease (PD) after the onset of motor symptoms. Patients and Methods: Prospective study carried out during 16 months in a public hospital. Two hundred newly diagnosed patients aged 41 to 90 years (50% women), were included and analyzed. Results: The lapse between the first symptom -more commonly tremor- and the diagnosis made by a neurologist ranged from 1 to 84 months (19.1 ± 13.8). In 39% of patients, it was done in the first year, in 26% during the second year and in 35% of patients, it took more than two years. The referral by a general practitioner had a delay ranging from 1 to 36 months. Sixty nine and 95% of patients were evaluated within the first 6 months after referral if they came from primary care or the same hospital, respectively. Twent

Association of GST M1 null polymorphism with Parkinson's disease in a Chilean population with a strong Amerindian genetic component

We have studied the association of a null mutation of Glutathione Transferase M1 (GST M1*0/0) with Parkinson's disease (MIM 168600) in a Chilean population with a strong Amerindian genetic component. We determined the genotype in 349 patients with idiopathic Parkinson's disease (174 female and 175 male; 66.84 ± 10.7 years of age), and compared that to 611 controls (457 female and 254 male; 62 ± 13.4 years of age). A significant association of the null mutation in GST M1 with Parkinson's disease was found (p = 0.021), and the association was strongest in the earlier age range. An association of GSTM1*0/0 with Parkinson's disease supports the hypothesis that Glutathione Transferase M1 plays a role in protecting astrocytes against toxic dopamine oxidative metabolism, and most likely by preventing toxic one-electron reduction of aminochrome. © 2007 Elsevier Ireland Ltd. All rights reserved

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

Fil: Mata, Ignacio F. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos.Fil: Wilhoite, Greggory J. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Yearout, Dora. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Bacon, Justin A. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Cornejo-Olivas, Mario. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Mazzetti, Pilar. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Marca, Victoria. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Ortega, Olimpio. Universidad Nacional Mayor de San Marcos. School of Medicine, Lima; Perú.Fil: Acosta, Oscar. Instituto Nacional de Ciencias Neurológicas. Movement disorders, Lima; Perú.Fil: Cosentino, Carlos. Instituto Nacional de Ciencias Neurológicas. Movement disorders, Lima; Perú.Fil: Torres, Luis. Universidad Nacional del Altiplano, Puno; Perú.Fil: Medina, Angel C. University of Chile. Faculty of Medicine. ICBM. Molecular and Clinical Pharmacology, Santiago; Chile.Fil: Perez-Pastene, Carolina. University of Chile. Faculty of Medicine. ICBM. Molecular and Clinical Pharmacology, Santiago; Chile.Fil: Díaz-Grez, Fernando. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Vilariño-Güell, Carles. Liga del Parkinson de Chile; Chile.Fil: Venegas, Pablo. Liga del Parkinson de Chile; Chile.Fil: Miranda, Marcelo. Liga del Parkinson de Chile; Chile.Fil: Trujillo-Godoy, Osvaldo. Hospital Barros Luco Trudeau; Chile.Fil: Layson, Luis. Hospital Barros Luco Trudeau; Chile.Fil: Avello, Rodrigo. Hospital Regional de Concepción; Chile.Fil: Dieguez, Elena. Universidad de la República. Facultad de Medicina. Departamento de Neurología, Montevideo; Uruguay.Fil: Raggio, Victor. Universidad de la República. Facultad de Medicina. Departamento de Genética, Montevideo; Uruguay.Fil: Micheli, Federico E. ANLIS Dr.C.G.Malbrán; Argentina.Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Dirección Científico Técnica; Argentina.Fil: Alvarez, Victoria. Hospital Universitario Central de Asturias. Instituto de Investigación Nefrológica (IRSINFRIAT). Laboratorio de Genética Molecular, Oviedo; España.Fil: Segura-Aguilar, Juan. Instituto Nacional de Ciencias Neurológicas. Unidad de Neurogenética, Lima; Perú.Fil: Farrer, Matthew J. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Fil: Zabetian, Cyrus P. Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Estados Unidos.Fil: Ross, Owen A. Mayo Clinic College of Medicine. Department of Neuroscience, Jacksonville, Florida; Estados Unidos.Mutations in the LRRK2 gene are the most common genetic cause of Parkinson's disease, with frequencies displaying a high degree of population-specificity. Although more than 100 coding substitutions have been identified, only seven have been proven to be highly penetrant pathogenic mutations. Studies however are lacking in non-white populations. Recently, Lrrk2 p.Q1111H (rs78365431) was identified in two affected Hispanic brothers and absent in 386 non-Hispanic white healthy controls. We therefore screened this variant in 1460 individuals (1150 PD patients and 310 healthy controls) from 4 Latin American countries (Peru, Chile, Uruguay and Argentina). In our case-control series from Peru and Chile we observed an increased frequency of Lrrk2 p.Q1111H in patients (7.9%) compared to controls (5.4%) although the difference did not reach significance (OR 1.38; p = 0.10). In addition, the frequency of Lrrk2 p.Q1111H varied greatly between populations and further screening in a set of pure Amerindian and pure Spanish controls suggested that this variant likely originated in an Amerindian population. Further studies in other Latin American populations are warranted to assess its role as a risk factor for Parkinson's disease. Screening in Parkinson's disease patients from under-represented populations will increase our understanding of the role of LRRK2 variants in disease risk worldwide