RESUMO
Introducción: La enfermedad de Parkinson es una entidad neurodegenerativa caracterizada por bradicinesia, temblor en reposo y rigidez. Objetivo: Determinar la relación entre el sexo y los síntomas motores y no motores en pacientes con enfermedad de Parkinson. Métodos: Se realizó un estudio observacional analítico transversal sobre la relación entre el sexo y los síntomas motores y no motores en pacientes con enfermedad de Parkinson en el Hospital Clínico Quirúrgico Lucía Íñiguez Landín en el año 2018. El universo estuvo constituido por los 675 pacientes con Parkinson atendidos en consulta. La muestra fue de 110 pacientes. Resultados: Predominó el grupo etario 60-69 años (34,55 por ciento). Los síntomas no motores al inicio de la enfermedad fueron mayores para un 68,18 por ciento. Dentro de los síntomas motores, prevalecieron el temblor (80 por ciento) y la rigidez (72,72 por ciento). El síntoma más prevalente en el sexo masculino fue el temblor y en el femenino la rigidez. Dentro de los síntomas no motores destacaron los trastornos del sueño para un 92,72 por ciento y alteraciones neuropsiquiátricas para un 86,36 por ciento. Conclusiones: En el presente estudio se encontraron diferencias significativas entre hombres y mujeres en la prevalencia de algunos síntomas motores y no motores(AU)
Introduction: Parkinson's disease is a neurodegenerative entity characterized by bradykinesia, tremor at rest and rigidity. Objective: To determine the relationship between sex and motor and non-motor symptoms in patients with Parkinson's disease. Methods: A cross-sectional analytical observational study was carried out on the relationship between sex and motor and non-motor symptoms in patients with Parkinson's disease at Lucía Íñiguez Landín Clinical Surgical Hospital in 2018. The universe consisted of 675 Parkinson's patients seen in consultation. The sample consisted of 110 patients. Results: The age group 60-69 years (34.55percent) predominated. Non-motor symptoms predominated at the beginning of the disease in 68.18percent. Tremor (80percent) and rigidity (72.72percent) predominated within the motor symptoms. The most prevalent symptom in males was tremor and rigidity in females. While as the non-motor symptoms, sleep disorders predominated in 92.72percent and neuropsychiatric disorders in 86.36percent. Conclusions: In the present study, significant differences were found between men and women in the prevalence of some motor and non-motor symptoms(AU)
Assuntos
Humanos , Masculino , Feminino , Doença de Parkinson/epidemiologia , Comportamento Sexual/psicologia , Sintomas Afetivos , Transtornos Motores/etiologia , Manifestações Neurológicas , Estudos Transversais , Estudo ObservacionalRESUMO
Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated with Parkinsonism and increased genetic risk for amyotrophic lateral sclerosis (ALS). Here we report the association of de novo mutations in ATXN2 with autosomal dominant ALS. These findings support our previous conjectures based on population studies on the role of large normal ATXN2 alleles as the source for new mutations being involved in neurodegenerative pathologies associated with CAG expansions. The de novo mutations expanded from ALS/SCA2 non-risk alleles as proven by meta-analysis method. The ALS risk was associated with SCA2 alleles as well as with intermediate CAG lengths in the ATXN2. Higher risk for ALS was associated with pathogenic CAG repeat as revealed by meta-analysis.