Portal de Periódicos da CAPES

Artigo Produção Nacional Revisado por pares

BIBTEX RIS

Complex movement disorders in fatal familial insomnia: A clinical and genetic discussion

2013; Lippincott Williams & Wilkins; Volume: 81; Issue: 12 Linguagem: Inglês

10.1212/wnl.0b013e3182a4a41d

1526-632X

José Luiz Pedroso, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Irapuá Ferreira Ricarte, Michele Christine Landemberger, Vilma R. Martins, Lucila Bizari Fernandes do Prado, Gilmar Fernandes do Prado, Orlando Graziani Póvoas Barsottini,

RNA regulation and disease

Fatal familial insomnia (FFI) represents a rare neurodegenerative autosomal dominant prion disease, usually affecting patients between the fifth and sixth decades, evolving rapidly to death.1,2 FFI results from a missense mutation at codon 178 (D178N) of the PRNP gene (located on chromosome 20p13) linked with methionine at codon 129 of the mutated allele. Its major neuropathologic features include severe neuronal loss with astrogliosis of mediodorsal and ventral anterior thalamic nuclei and inferior olivary nuclei, with variable degrees of spongiosis, especially in subiculum entorhinal cortex.3