3 documents found, page 1 of 1
High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
Smid,Jerusa; Studart Neto,Adalberto; Landemberger,Michele Christine; Machado,Cleiton Fagundes; Nóbrega,Paulo Ribeiro; Canedo,Nathalie Henriques SilvaABSTRACT Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients...
Encephalitis associated with the chikungunya epidemic outbreak in Brazil: repor...
Pereira,Licia Pacheco; Villas-Bôas,Rafaela; Scott,Stephanie Suzanne de Oliveira; Nóbrega,Paulo Ribeiro; Sobreira-Neto,Manoel AlvesAbstract Chikungunya, an alphavirus infection presenting with fever, rash, and polyarthritis, is most often an acute febrile illness. Neurologic complications of chikungunya infection have been reported. Here we report the clinical and neuroimaging data of 2 patients with chikungunya-associated encephalitis during the recent Brazilian epidemic.
The importance of recognizing faciobrachial dystonic seizures in rapidly progre...
Simabukuro,Mateus Mistieri; Nóbrega,Paulo Ribeiro; Pitombeira,Milena; Cavalcante,Wagner Cid Palmeira; Grativvol,Ronnyson Susano; Pinto,Lécio FigueiraABSTRACT Background: Creutzfeldt-Jakob Disease (CJD) is the prototypical cause of rapidly progressive dementia (RPD). Nonetheless, efforts to exclude reversible causes of RPD that mimic prion disease are imperative. The recent expanding characterization of neurological syndromes associated with antibodies directed against neuronal cell surface or sympathic antigens, namely autoimmune encephalitis is shifting pa...