RESUMO
Spinocerebellar ataxia 3 is an untreatable CAG repeat expansion disorder whose natural history is not completely understood. Our aims were to describe the progression of neurological manifestations in a long-term cohort of spinocerebellar ataxia 3, and to verify if CAG expanded repeat, gender, and age at onset were associated with the rate of progression. Patients entered the study between 1998 and 2005 and were seen until 2007. On each visit, the validated NESSCA scale, an inventory of 18 neurological manifestations, was applied. Scores observed in each year of disease duration produced a Growth Curve, which was analyzed through the random coefficients model. Scores obtained in some individual items were described through multi-state Markov models. One hundred fifty-six patients (78 families) were recruited; 28 were lost, and 23 died. Mean (sd) ages at onset and at baseline were 32.8 (10.6) and 40.7 (12.8) years; median (range) expanded CAGn was 74 (67-85). Three hundred fifteen NESSCA evaluations were performed, comprising disease durations from zero to 34 years. The 105 patients who completed the study were seen over 5 (sd = 2.4) years at intervals of 2.5 (sd = 1.5) years. The trajectory of NESSCA obtained for the overall group increased by 1.26 points per year. This slope increased by 0.15 points per each additional CAG in the expanded repeat (p < 0.0002) and decreased by 0.03 points per each additional year of age at onset (p = 0.005). NESSCA worsened steadily, producing linear trajectories, which were faster among patients with longer expanded repeats (>74) and with lower ages at onset (<34 years).
Assuntos
Doença de Machado-Joseph/genética , Doença de Machado-Joseph/fisiopatologia , Adulto , Fatores Etários , Idade de Início , Criança , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Prognóstico , Repetições de Trinucleotídeos/genéticaRESUMO
BACKGROUND: Evidence points to the occurrence of cognitive impairment in all stages of PD, constituting a frequent and debilitating symptom, due to high impact on quality of life and mortality of patients. OBJECTIVE: To correlate cognitive performance with quality of life in PD. METHODS: The sample was drawn from a Movement Disorders Clinic of a reference hospital in Porto Alegre. Inclusion criteria were: PD diagnosis, according to the United Kingdom Parkinson's Disease Society Brain Bank criteria for idiopathic PD (Hughes et al. 1992) and patient consent to participate. Patients with other neurological pathologies and those submitted to deep brain stimulation were excluded. The evaluation consisted of a cognitive testing battery (composed of eight tests for assessing cognitive performance), and a questionnaire on quality of life (PDQ-39) and depression (BDI). RESULTS: The sample comprised 85 individuals with PD, with a mean age of 62.9 years (±10.7), mean disease duration of 10.4 years (±5.7), and mean educational level of four years (±4.3). There was a significant relationship between total score on the PDQ and all cognitive tests, showing that poor cognitive performance was correlated with poor quality of life. Moreover, a significant correlation was observed between cognitive tests and depression, H&Y, education level, and age. CONCLUSION: It may be concluded that the individuals with PD in this sample showed a correlation between poorer quality of life and worse cognitive performance. Poor performance was also correlated with more advanced stage, older age, low level of education and depression.
EMBASAMENTO: As evidências apontam a ocorrência de comprometimento cognitivo em todas as fases da doença de Parkinson (DP), sendo este um sintoma não motor frequente e incapacitante, devido ao alto impacto na qualidade de vida e mortalidade dos pacientes. OBJETIVO: correlacionar a performance cognitiva com qualidade de vida na DP. MÉTODOS: A amostra foi oriunda de um Ambulatório de Distúrbios do Movimento de um hospital referência de Porto Alegre. Os critérios de inclusão utilizados foram ter diagnóstico de DP e consentir em participar do estudo. Exclui-se pacientes com outras patologias neurológicas ou pacientes com estimulação cerebral profunda. A avaliação foi composta por uma anamnese, bateria de testes cognitivos (composta por oito testes), questionários sobre qualidade de vida (PDQ-39) e depressão (BDI). RESULTADOS: A amostra foi composta por 85 indivíduos com DP, com média de idade de 62,9 anos (±10,7), média do tempo de doença de 10,4 anos (±5,7) e média de escolaridade de 7,4 anos (±4,3). Verificou-se relação significativa entre escore total do PDQ com todos os testes cognitivos, demonstrando que pior performance cognitiva está relacionada com pior qualidade de vida. Além disso, foi observado correlação significativa entre os testes cognitivos com depressão, H&Y, escolaridade e idade. CONCLUSÃO: Pode-se concluir que na presente amostra indivíduos com DP apresentaram correlação entre pior qualidade de vida com pior desempenho cognitivo. Isto também foi observado com estágio avançado da doença, idade avançada, baixa escolaridade e depressão.
RESUMO
ABSTRACT Background: Evidence points to the occurrence of cognitive impairment in all stages of PD, constituting a frequent and debilitating symptom, due to high impact on quality of life and mortality of patients. Objective: To correlate cognitive performance with quality of life in PD. Methods: The sample was drawn from a Movement Disorders Clinic of a reference hospital in Porto Alegre. Inclusion criteria were: PD diagnosis, according to the United Kingdom Parkinson's Disease Society Brain Bank criteria for idiopathic PD (Hughes et al. 1992) and patient consent to participate. Patients with other neurological pathologies and those submitted to deep brain stimulation were excluded. The evaluation consisted of a cognitive testing battery (composed of eight tests for assessing cognitive performance), and a questionnaire on quality of life (PDQ-39) and depression (BDI). Results: The sample comprised 85 individuals with PD, with a mean age of 62.9 years (±10.7), mean disease duration of 10.4 years (±5.7), and mean educational level of four years (±4.3). There was a significant relationship between total score on the PDQ and all cognitive tests, showing that poor cognitive performance was correlated with poor quality of life. Moreover, a significant correlation was observed between cognitive tests and depression, H&Y, education level, and age. Conclusion: It may be concluded that the individuals with PD in this sample showed a correlation between poorer quality of life and worse cognitive performance. Poor performance was also correlated with more advanced stage, older age, low level of education and depression.
RESUMO Embasamento: As evidências apontam a ocorrência de comprometimento cognitivo em todas as fases da doença de Parkinson (DP), sendo este um sintoma não motor frequente e incapacitante, devido ao alto impacto na qualidade de vida e mortalidade dos pacientes. Objetivo: correlacionar a performance cognitiva com qualidade de vida na DP. Métodos: A amostra foi oriunda de um Ambulatório de Distúrbios do Movimento de um hospital referência de Porto Alegre. Os critérios de inclusão utilizados foram ter diagnóstico de DP e consentir em participar do estudo. Exclui-se pacientes com outras patologias neurológicas ou pacientes com estimulação cerebral profunda. A avaliação foi composta por uma anamnese, bateria de testes cognitivos (composta por oito testes), questionários sobre qualidade de vida (PDQ-39) e depressão (BDI). Resultados: A amostra foi composta por 85 indivíduos com DP, com média de idade de 62,9 anos (±10,7), média do tempo de doença de 10,4 anos (±5,7) e média de escolaridade de 7,4 anos (±4,3). Verificou-se relação significativa entre escore total do PDQ com todos os testes cognitivos, demonstrando que pior performance cognitiva está relacionada com pior qualidade de vida. Além disso, foi observado correlação significativa entre os testes cognitivos com depressão, H&Y, escolaridade e idade. Conclusão: Pode-se concluir que na presente amostra indivíduos com DP apresentaram correlação entre pior qualidade de vida com pior desempenho cognitivo. Isto também foi observado com estágio avançado da doença, idade avançada, baixa escolaridade e depressão.