PURPOSE: A limited number of cases of adult-onset Rasmussen's encephalitis (A-RE) have been reported, but the features of the syndrome are still unclear. The aim of this study was to verify the clinical features of A-RE, and outline a noninvasive approach that may allow its early diagnosis and treatment. METHODS: Retrospective evaluation of extensive noninvasive work-up of seven patients with A-RE, including repeat clinical, neurophysiological, and neuroimaging investigations. RESULTS: The study identified two distinct patterns of disease presentation, one characterized by focal motor epilepsy (the "epileptic" phenotype), and the other by focal cortical myoclonus (the "myoclonic" phenotype). Unilateral neurological deficits and brain atrophy were progressive in both phenotypes, but they were more prominent and were detected earlier in the "epileptic" phenotype. CONCLUSIONS: The anatomo-electroclinical features of these patients allowed a noninvasive diagnosis of A-RE and identification of two distinct disease phenotypes. Early noninvasive diagnosis can allow faster initiation of treatment.
PURPOSE: A limited number of cases of adult-onset Rasmussen's encephalitis (A-RE) have been reported, but the features of the syndrome are still unclear. The aim of this study was to verify the clinical features of A-RE, and outline a noninvasive approach that may allow its early diagnosis and treatment. METHODS: Retrospective evaluation of extensive noninvasive work-up of seven patients with A-RE, including repeat clinical, neurophysiological, and neuroimaging investigations. RESULTS: The study identified two distinct patterns of disease presentation, one characterized by focal motor epilepsy (the "epileptic" phenotype), and the other by focal cortical myoclonus (the "myoclonic" phenotype). Unilateral neurological deficits and brain atrophy were progressive in both phenotypes, but they were more prominent and were detected earlier in the "epileptic" phenotype. CONCLUSIONS: The anatomo-electroclinical features of these patients allowed a noninvasive diagnosis of A-RE and identification of two distinct disease phenotypes. Early noninvasive diagnosis can allow faster initiation of treatment.
Authors: Sara Casciato; Carlo Di Bonaventura; Anna Teresa Giallonardo; Jinane Fattouch; Pier Paolo Quarato; Addolorata Mascia; Alfredo D'Aniello; Andrea Romigi; Vincenzo Esposito; Giancarlo Di Gennaro Journal: Neurosurg Rev Date: 2015-04-16 Impact factor: 3.042
Authors: Vijay M Ravindra; Marcus D Mazur; Carrie A Mohila; Matthew T Sweney; Aimee Hersh; Robert J Bollo Journal: Childs Nerv Syst Date: 2015-06-02 Impact factor: 1.475
Authors: Sophia Varadkar; Christian G Bien; Carol A Kruse; Frances E Jensen; Jan Bauer; Carlos A Pardo; Angela Vincent; Gary W Mathern; J Helen Cross Journal: Lancet Neurol Date: 2014-02 Impact factor: 44.182
Authors: Ricardo Pires Alvim; Patrick Aguiar; Daniel Kempel Amado; Maria Sheila Guimarães Rocha; Roberta Diehl Rodriguez; Sonia Maria Dozzi Brucki Journal: Dement Neuropsychol Date: 2020-12
Authors: Tilman Schneider-Hohendorf; Hema Mohan; Christian G Bien; Johanna Breuer; Albert Becker; Dennis Görlich; Tanja Kuhlmann; Guido Widman; Sebastian Herich; Christiane Elpers; Nico Melzer; Klaus Dornmair; Gerhard Kurlemann; Heinz Wiendl; Nicholas Schwab Journal: Nat Commun Date: 2016-04-04 Impact factor: 14.919