RESUMO
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.
Assuntos
Neurite do Plexo Braquial/genética , Cromossomos Humanos Par 17/genética , GTP Fosfo-Hidrolases/genética , Mutação , Sequência de Aminoácidos , Animais , Sequência de Bases , Cães , Humanos , Camundongos , Dados de Sequência Molecular , Ratos , SeptinasRESUMO
OBJECTIVE: To study the usefulness of a new parent questionnaire and to evaluate the prevalence of inattention, hyperactivity, impulsivity and co-existing problems in a group of 6-8-year-old children. METHOD: A questionnaire comprising 179 three-score-items including the DSM-IV diagnostic symptom criteria on AD/HD and questions on motor function, executive functions, perception, memory, language and speech, learning, social skills and psychiatric problems was used (5-15 questionnaire, FTF). The answers given by parents of 6-8-year-old children in a community in Finland are presented. RESULTS: The answers for 471 children, 230 boys and 241 girls, revealed a significantly higher rate of problems for boys than for girls in all developmental domains. The number of children with scores exceeding the mean +2 SD for inattention and/or hyperactivity-impulsivity subdomains were 42. About an half of these children had many coexisting problems, when the 90(th) percentile score for each domain was used as a measurement. Of the 42 children 11 fulfilled the DSM-IV symptom list criteria (6/9 for inattention and/or hyperactivity-impulsivity) for AD/HD and 9 children for subthreshold (5/9) AD/HD. CONCLUSION: A community-based study revealed that 2.3% of 6-8-year-old children had the full symptom list criteria (6/9) of AD/HD according to DSM-IV, and another 1.9 % fulfilled the symptom criteria (5/9) for subthreshold AD/HD. Coexisting problems were common. The severity of symptoms of inattentiveness and hyperactivity-impulsivity correlated significantly with the severity of coexisting problems.