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Artigo ANTI-MA2 encephalitis mimicking diencephalic demyelinating syndrome(Elsevier, 2020-11-03) Godeiro Junior, Clécio de Oliveira; Pessoa Neto, Agábio Diógenes; Aquino, Bárbara Cristina Vieira de; Brito, Paulo Santiago de Morais; Silva, Rodrigo de Alencar e; Moreira Neto, Manuel; Barsottini, Orlando Graziani Povoas; Dutra, Lívia Almeida; 0000-0002-4312-1633Anti Ma 2 encephalitis is an autoimmune encephalitis, usually paraneoplastic, characterized by isolated or combined limbic, diencephalic, or brainstem dysfunction. Limbic encephalitis (LE) is the most common manifestation. Anti-Ma2 LE can also be manifested as a pure psychiatric disturbance associated or not with hypokinesia. Other patients exhibit excessive daytime sleepiness, vertical ophthalmoparesis, or both associated with LE, due to diencephalic and/or upper brainstem involvement. These cases are challenging and demand extensive work-up for differential diagnosis.Artigo Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients(Elsevier, 2020-11-03) Godeiro Junior, Clécio de Oliveira; Gama, Maria Thereza D.; Braga-Neto, Pedro; Rangel, Deborah M.; Silva, Rodrigo de Alencar e; Embiruçu, Emília K.; Cornejo-Olivas, Mario; Sarapura-Castro, Elison; Awad, Paula Saffie; Chesta, Daniela Muñoz; Kauffman, Marcelo; Quiroga, Sergio Rodriguez; Jardim, Laura B.; Graça, Felipe F. da; França Junior, Marcondes C.; Tomaselli, Pedro J.; Marques Junior, Wilson; Teive, Helio A.G.; Barsottini, Orlando G.P.; Pedroso, José Luiz; Synofzik, Matthis; 0000-0002-4312-1633Autosomal recessive cerebellar ataxias (ARCAs) comprise complex genetic ataxia disorders with variable central and peripheral nervous system involvement and systemic changes. They can overlap with other conditions such as hereditary spastic paraplegia, inborn errors of metabolism, and genetic encephalopathies.1 While usually starting in childhood or young adulthood, late adult-onset may occur. The advanced application of next-generation sequencing has allowed the molecular definition of many previously undetermined ARCAs in the last decade, including many new ARCA genes