RESUMO
A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group. In the patient group, no premutation carrier was found, which is in agreement with other observed frequencies reported elsewhere (0-5% variation). No significant differences were found when comparing gray zone allele frequencies among target and control groups. The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Ataxia/diagnóstico , Doença de Parkinson/diagnóstico , Frequência do Gene , Proteína do X Frágil da Deficiência Intelectual/genética , Tremor/diagnóstico , Alelos , Ataxia/fisiopatologia , Ataxia/genética , Ataxia/patologia , Estudos de Casos e Controles , Doença de Parkinson/fisiopatologia , Doença de Parkinson/genética , Doença de Parkinson/patologia , Predisposição Genética para Doença , Tremor/fisiopatologia , Tremor/genética , Tremor/patologiaRESUMO
A Doença de Parkinson (DP) é uma doença crônica e degenerativa do sistema nervoso central que afeta principalmente pessoas acima de 50 anos. Estudos que avaliaram a qualidade de vida (QV) em parkinsonianos revelaram significativo impacto negativo da doença nesses indivíduos. O Parkinson Disease Questionnaire39 (PDQ-39) tem sido indicado como instrumento mais apropriado para avaliação da QV do indivíduo com DP. OBJETIVO: Avaliar a percepção da QV de indivíduos com DP do Ambulatório de Distúrbios do Movimento da Instituição, através do PDQ-39. MÉTODO: Participaram deste estudo indivíduos com diagnóstico de DP, entre os estágios 1 e 3 da escala de Hoehn & Yahr Modificada e com idade igual ou superior a 40 anos. RESULTADOS: Trinta e três indivíduos com média de idade de 64,65 (±10,44) anos e tempo médio de evolução da doença de 9,27 (±4,40) anos participaram deste estudo. A análise descritiva mostrou que a mediana do escore total no PDQ-39 foi 25 por cento, ocorrendo pior percepção da QV nas dimensões "Atividade de Vida Diária (AVD)" (41,67 por cento) e "Mobilidade" (34,32 por cento). Encontrou-se alta associação entre o escore total e a dimensão "Mobilidade" (r s= 0,82) e moderada associação das dimensões "AVD" (r s= 0,68) e "Comunicação" (r s= 0,53) com o escore total. CONCLUSÕES: As limitações motoras relacionadas à mobilidade, AVDs e comunicação possuem relação significativa com a percepção geral da QV dos indivíduos com DP. Estes achados sugerem que programas de reabilitação que tenham como objetivo a melhora da QV na DP devem enfocar tais limitações.
Parkinson's disease (PD) is a chronic degenerative disease of the central nervous system that affects mainly individuals older than 50 years of age. Studies evaluating quality of life (QOL) in individuals with PD have revealed that this disease has a significant negative impact. The Parkinson's Disease Questionnaire-39 (PDQ-39) has been indicated as one of the most appropriate instrument for evaluating QOL in individuals with PD. OBJECTIVE: To evaluate the perception of QOL in individuals with PD at our Institution's outpatient service for movement disorders, using the PDQ-39. METHOD: Individuals with a diagnosis of PD who were aged 40 years and older and classified in stages 1 to 3 of the Modified Hoehn & Yahr scale were included in this study. RESULTS: Thirty-three individuals of mean age 64.65 ± 10.44 years and mean duration of the disease of 9.27 ± 4.40 years participated in this study. The descriptive analysis showed that the median total score in the PDQ-39 was 25 percent, with worst perceptions of QOL in the dimensions of "Activities of Daily Living" (ADL) (41.67 percent) and "Mobility" (34.32 percent). A high association was found between the total score and the dimension of "Mobility" (r s= 0.82) and a moderate association between the total score and the dimensions of "ADL" (r s= 0.68) and "Communication" (r s = 0.53). CONCLUSIONS: Motor limitations relating to mobility, ADL and communication were significantly related to the general perception of QOL among individuals with PD. These findings suggest that rehabilitation programs aiming to improve QOL among individuals with PD should focus on these limitations.