RESUMEN
Mutations in the Leucine-rich repeat kinase 2 (LRRK2) gene are known as a common cause of Parkinson's disease (PD) among patients from different geographic origins. In this study, we evaluated the prevalence of LRRK2 mutations in exons 31 and 41 in a cohort of 154 consecutive, unrelated Brazilian patients with familial or sporadic PD, including early and late onset patients. The LRRK2 p.G2019S mutation was present in heterozygous state in three index cases (approximately 2%), and in three additional relatives. No carriers of this mutation were found among 250 control chromosomes. Clinically, all mutation-positive patients presented a typical PD phenotype and a good response to levodopa. Mutation segregation analysis in a large sibling showed incomplete penetrance of the p.G2019S. Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , Mutación/genética , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/genética , Proteínas Serina-Treonina Quinasas/genética , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Antiparkinsonianos/uso terapéutico , Brasil/epidemiología , Estudios de Cohortes , Análisis Mutacional de ADN , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Pruebas Genéticas , Genotipo , Humanos , Patrón de Herencia/genética , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Persona de Mediana Edad , Linaje , Penetrancia , Fenotipo , PrevalenciaRESUMEN
The prevalence of non-motor symptoms in Parkinson's disease (PD) is high. Depression varies from 20 to 50% of the PD patients, and is associated with increasing disability. The key characteristics of depression are anhedonia and low mood. The recommended scales for screening purposes are: HAM-D, BDI, HADS, MADRS and GDS. As for measurement of severity: HAM-D, MADRS, BDI and SDS. In cases with mild depression, non-pharmacological intervention is the treatment of choice. In moderate depression, antidepressants are required. The choice of an antidepressant should be based mainly on the comorbidities and unique features of the patient. Evidence for antidepressant effectiveness is seen mostly with amitriptyline and nortriptyline, but one should be cautious in elderly patients. Other antidepressants that can be prescribed are: citalopram, escitalopram, sertraline, bupropion, trazodone, venlafaxine, mirtazapine and duloxetin. The dopaminergic agonist pramipexole is a treatment option.
Asunto(s)
Depresión/diagnóstico , Enfermedad de Parkinson/psicología , Antidepresivos/uso terapéutico , Depresión/tratamiento farmacológico , Ejercicio Físico/psicología , Humanos , Escalas de Valoración Psiquiátrica , Calidad de Vida/psicología , Índice de Severidad de la Enfermedad , Evaluación de Síntomas/estadística & datos numéricosRESUMEN
Paroxysmal dyskinesias (PD) are thought to be rare movement disorders. The overwhelming majority of reported cases are primary. Secondary PD has seen reported to occur in some conditions, mainly in multiple sclerosis and head trauma. The anatomic origin of the lesion is also rarely seen at the spinal cord. Our objective was to describe four patients with paroxysmal dystonia secondary to spinal lesions during the recovering phase of a neuromyelitis optica (NMO) bout. In the reviewed literature, we do not find any report of PD related to NMO.
Asunto(s)
Distonía/complicaciones , Neuromielitis Óptica/complicaciones , Adulto , Anciano , Anticonvulsivantes/uso terapéutico , Carbamazepina/uso terapéutico , Distonía/diagnóstico , Distonía/tratamiento farmacológico , Femenino , Humanos , Persona de Mediana EdadRESUMEN
Paroxysmal dyskinesias (PD) are thought to be rare movement disorders. The overwhelming majority of reported cases are primary. Secondary PD has seen reported to occur in some conditions, mainly in multiple sclerosis and head trauma. The anatomic origin of the lesion is also rarely seen at the spinal cord. Our objective was to describe four patients with paroxysmal dystonia secondary to spinal lesions during the recovering phase of a neuromyelitis optica (NMO) bout. In the reviewed literature, we do not find any report of PD related to NMO.
Discinesias paroxísticas (DP) são distúrbios do movimento raros. A maioria dos casos relatados é de origem primária. DP secundárias têm sido relatadas em algumas condições, principalmente na esclerose múltipla e no trauma craniano. A origem anatômica da lesão também é raramente observada na medula. O objetivo deste trabalho foi descrever quatro pacientes com distonia paroxística secundária a lesões medulares, ocorrida durante a fase de recuperação do surto de neuromielite óptica (NMO). Na literatura consultada, não encontramos qualquer relato de DP secundárias à NMO.