Características clínicas e laboratoriais de uma doença neurológica rara e hereditária em uma família do Brasil central

• Autor(a) principal: Medeiros, Rodrigo Parente
• Data de Publicação: 2016
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Repositório Institucional da UFG
• Texto Completo: http://repositorio.bc.ufg.br/tede/handle/tede/10885
• topic: Doenças cerebelares; Deficiência intelectual; Paraplegia espástica hereditária; Ataxia; Doença rara; Rare disease; Cerebelar diseases; Spastic paraplegia; Intelectual disability; CIENCIAS DA SAUDE::MEDICINA::CLINICA MEDICA

A rare disease is defined by the World Health Organization as diseases that affect up to 65 people / 100,000. To evaluate these diseases it is required to be performed a lot of tests and it is often not possible to reach a definitive diagnosis. The aim is to describe the clinical and neuroimaging aspects in a countryside Goiás’ family that carries a rare neurodegenerative disease. It’s a descriptive study about five brothers. It’s conducted physical examinations, laboratory, MRI of the cervical column, dorsal and lumbar besides the skull. Made neurophysiological diagnosis, Through genetic sequencing to make exome. We were subjected to neuropsychological assessment, the MEEM and FIM. The five brothers have in common the tetraparesia of crural predominance , muscular atrophy of the lower limbs , severe mental retardation early onset , cerebellar atrophy , paravertebral atrophy and motor axonal neuropathy. Made sequencing the exome for research related genes hereditary spastic paraparesis and not found any gene related to this disease. A probable diagnosis would be the spinocerebellar ataxia type 13, due to the reported clinical picture. But it is necessary a genetic study to proof it. Continuous genetic evaluation of these patients is important because of the description of new genes.