Depressive symptoms and perception of quality of life in Parkinson's disease Sintomas depressivos e percepção da qualidade de vida na doença de Parkinson

BACKGROUND: Depression has been proposed as a major contributor to poor quality of life (QoL) in Parkinson's disease (PD). OBJECTIVE: To evaluate the relationship between depressive symptoms and QoL in subjects with PD. METHOD: Beck Depression Inventary (BDI) was used to evaluate depressive symptoms and Parkinson's Disease Quality of Life Questionnaire (PDQ-39) to assess the perception of the QoL. RESULTS: Thirty seven patients (19 male/ 18 female) with a typical onset PD and mean disease duration of 7.7 years were studied. Higher scores on BDI correlated with poorer perception of the QoL. This association occurred at the expense of the following PDQ39 domains: mobility, activities of daily living, social support, cognition and emotional well-being dimensions. PD severity also correlated with QoL. CONCLUSION: Our study corroborates the assumption that depressive symptoms contributed significantly to QoL in PD.<br>Introdução: Depressão tem sido proposta como um importante fator para a piora da qualidade de vida (QV) na doença de Parkinson (DP). OBJETIVO: Avaliar a relação entre sintomas depressivos e a QV em indivíduos com DP. MÉTODO: Foi utilizado o Inventário de Depressão de Beck (IDB) para avaliar depressão e o Questionário de Qualidade de Vida na Doença de Parkinson (PDQ-39) para investigar a percepção da QV. RESULTADOS: Trinta e sete pacientes (19 homens e 18 mulheres) com idade de início típica da DP e duração média da doença de 7,7 anos foram estudados. Maiores escores no IDB correlacionaram-se com pior percepção da QV. Essa associação ocorreu em virtude da pior percepção das dimensões de mobilidade, atividades da vida diária, apoio social, cognição e bem-estar emocional do PDQ-39. A gravidade da DP também se correlacionou com a QV. CONCLUSÃO: Nosso estudo corrobora o conceito de que os sintomas depressivos contribuem significativamente para a QV em indivíduos com DP

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental factors. Although the pathophysiology of PD neurodegeneration remains unclear, protein misfolding, mitochondrial abnormalities, glutamate dysfunction and/or oxidative stress have been implicated. In this study, we report that a rare T1492G variant in GLUD2, an X-linked gene encoding a glutamate dehydrogenase (a mitochondrial enzyme central to glutamate metabolism) that is expressed in brain (hGDH2), interacted significantly with age at PD onset in Caucasian populations. Individuals hemizygous for this GLUD2 coding change that results in substitution of Ala for Ser445 in the regulatory domain of hGDH2 developed PD 6–13 years earlier than did subjects with other genotypes in two independent Greek PD groups and one North American PD cohort. However, this effect was not present in female PD patients who were heterozygous for the DNA change. The variant enzyme, obtained by substitution of Ala for Ser445, showed an enhanced basal activity that was resistant to GTP inhibition but markedly sensitive to modification by estrogens. Thus, a gain-of-function rare polymorphism in hGDH2 hastens the onset of PD in hemizygous subjects, probably by damaging nigral cells through enhanced glutamate oxidative dehydrogenation. The lack of effect in female heterozygous PD patients could be related to a modification of the overactive variant enzyme by estrogens