RESUMEN
A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Mutación/genética , Proteínas del Tejido Nervioso/genética , Enfermedad de Parkinson/genética , Edad de Inicio , Brasil , Linaje , Reacción en Cadena de la Polimerasa , Mapeo RestrictivoRESUMEN
Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients
Asunto(s)
Humanos , Niño , Adolescente , Adulto , Persona de Mediana Edad , Masculino , Femenino , ADN/análisis , Enfermedad de Huntington/genética , Expansión de Repetición de Trinucleótido/genética , Edad de Inicio , Brasil , Estudios de Casos y Controles , Genotipo , Reacción en Cadena de la PolimerasaRESUMEN
Os autores relatam o caso de uma paciente com espasmo hemifacial e impressäo basilar associados a malformaçäo de Arnold-Chiari. Com a descompressäo cirúrgica da fossa posterior, empregada no tratamento da impressäo basilar, houve melhora do quadro clínico e o espasmo hemifacial se reduziu quanto à freqüência, duraçäo e intensidade. É enfatizada a necessidade do tratamento etiológico do espasmo hemifacial, antes de se recorrer à toxina botulínica