RESUMEN
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.
Asunto(s)
Ataxia , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Frecuencia de los Genes , Temblor , Alelos , Ataxia/diagnóstico , Ataxia/genética , Ataxia/patología , Ataxia/fisiopatología , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/patología , Enfermedad de Parkinson/fisiopatología , Temblor/diagnóstico , Temblor/genética , Temblor/patología , Temblor/fisiopatologíaRESUMEN
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.
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Ataxia/diagnóstico , Enfermedad de Parkinson/diagnóstico , Frecuencia de los Genes , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Temblor/diagnóstico , Alelos , Ataxia/fisiopatología , Ataxia/genética , Ataxia/patología , Estudios de Casos y Controles , Enfermedad de Parkinson/fisiopatología , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/patología , Predisposición Genética a la Enfermedad , Temblor/fisiopatología , Temblor/genética , Temblor/patologíaRESUMEN
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.
Asunto(s)
Humanos , Masculino , Femenino , Actividades Cotidianas , Enfermedad de Parkinson , Calidad de Vida , Servicios de RehabilitaciónRESUMEN
From 1971 to 1993, 52 myasthenics without thymomas (7 men and 45 women) were thymectomized. The results were categorized in remissions and non-remissions. The remission rate was 48%. In the remission group there were 5 men and 20 women and in the non-remission group 2 men and 25 women. The follow-up time was 5.5 years in both groups. There were 16 patients in Osserman category II A, 11 achieving remission; 36 patients were in categories IIB and III, and 14 achieved remission. The duration of disease was 1.8 years and 4.3 years in the remission and non-remission groups, respectively. All patients with remission had less than four years of disease but among the 43 patients with less than four years of symptoms, 42% did not achieve remission. Our data reinforce the need for early thymectomy in myasthenia gravis.
Asunto(s)
Miastenia Gravis/cirugía , Timectomía , Adolescente , Adulto , Factores de Edad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Inducción de Remisión , Timo/patología , Factores de TiempoRESUMEN
To explore the relationship between hereditary motor and sensory neuropathy (HMSN) and movement disorders, we examined 7 patients with HMSN referred to our Movement Disorders Clinic and surveyed members of the Charcot-Marie-Tooth association. The following movement disorders were observed in the index patients: postural tremor in 6, rest tremor in 3, and Parkinsonism and dystonia in 2. Tremor, present in 40% of the 201 patients who responded to the survey, was first noted at a mean age of 36 years, and mostly involved the hands. Family history of tremor was more frequent in the tremor group (P < 0.005), which also had a significantly worse writing score than the nontremor group (P < 0.001). The overlap in clinical features between HMSN-associated tremor and essential tremor (ET), the high frequency of family history of tremor, and the lack of a relationship between the severity of tremor and of peripheral neuropathy suggest that the tremor in HMSN is pathogenically related to ET.
Asunto(s)
Neuropatía Hereditaria Motora y Sensorial/complicaciones , Temblor/complicaciones , Anciano , Escritura Manual , Neuropatía Hereditaria Motora y Sensorial/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Sensación , Encuestas y CuestionariosRESUMEN
We describe four patients, two with Tourette's syndrome, one with the combination of idiopathic dystonia and essential-like tremor, and one with tardive dystonia, who noted marked exacerbation of their movement disorders after exposure to cocaine. These patients provide support for the hypothesis that dopaminergic preponderance plays an important role in the pathogenesis of certain hyperkinetic movement disorders. Cocaine should be regarded as an important cause or precipitant of hyperkinetic movement disorders.
Asunto(s)
Cocaína/efectos adversos , Discinesia Inducida por Medicamentos/etiología , Trastornos Relacionados con Sustancias/complicaciones , Adulto , Discinesia Inducida por Medicamentos/diagnóstico , Distonía/inducido químicamente , Distonía/diagnóstico , Femenino , Humanos , Masculino , Examen Neurológico/efectos de los fármacos , Recurrencia , Síndrome de Tourette/inducido químicamente , Síndrome de Tourette/diagnóstico , Temblor/inducido químicamente , Temblor/diagnósticoRESUMEN
The case of a Brazilian patient with cortico-basal ganglionic degeneration (CBGD) is presented. Since three years ago, a 71-year old male displays asymmetric ideomotor apraxia, gait apraxia, cortical sensory impairment, myoclonus, limp dystonia and rigidity. His mental status is spared. There is neither consanguinity nor similar cases in his family. The differential diagnosis of CBGD is discussed. A brief review of the literature is made stressing the clinical and pathological features of CBGD. This disease is poorly known and probably underdiagnosed. Its diagnosis can be safely made based on clinical grounds.