Asunto(s)
Fenitoína/efectos adversos , Fenitoína/farmacocinética , Traumatismos de los Tejidos Blandos/metabolismo , Traumatismos de los Tejidos Blandos/patología , Femenino , Humanos , Infusiones Intravenosas , Persona de Mediana Edad , Necrosis , Fenitoína/administración & dosificación , Traumatismos de los Tejidos Blandos/inducido químicamenteRESUMEN
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)
Mutación/genética , Proteínas del Tejido Nervioso/genética , Enfermedad de Parkinson/genética , Adulto , Edad de Inicio , Anciano , Brasil , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje , Reacción en Cadena de la Polimerasa , Mapeo Restrictivo , Sinucleínas , alfa-SinucleínaRESUMEN
We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2%) had TS defined criteria whereas 10 (22.7%) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7%), mainly affecting the eyes (43.2%), mouth (43.2%), face (34.1%). Simple vocal tics occurred in 33 (75%). Coprolalia was found in just 6 cases (13.6%) and copropraxia in just 2 (4.5%). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1%) and attention deficit in 17 (38.6%). Eighteen patients (40.9%) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders.
Asunto(s)
Tics/complicaciones , Síndrome de Tourette/complicaciones , Adolescente , Adulto , Edad de Inicio , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Brasil/epidemiología , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastorno Obsesivo Compulsivo/complicaciones , Trastorno Obsesivo Compulsivo/diagnóstico , Estudios Retrospectivos , Tics/diagnóstico , Síndrome de Tourette/diagnósticoRESUMEN
We report three patients who collectively have very representative clinical forms of neuro-Behçet and different neurological findings. The first case, male, 49 years old, presents symptoms similar to multiple sclerosis. The second case, male 15 years old, presents with parenchymatous compromise and an association with antiphospholipid antibody. And the third case, female 25 years old, presents an acute meningitis. Neuro-Behçet must always be included as a differential diagnosis of neurological disorders that have any difficulties in establishing a definite diagnosis.
