Journal article

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder

A Badhwar, SF Berkovic, JP Dowling, M Gonzales, S Narayanan, A Brodtmann, L Berzen, J Caviness, C Trenkwalder, J Winkelmann, J Rivest, M Lambert, O Hernandez-Cossio, S Carpenter, F Andermann, E Andermann

BRAIN | OXFORD UNIV PRESS | Published : 2004

Abstract

Action myoclonus-renal failure syndrome (AMRF) is a distinctive form of progressive myoclonus epilepsy associated with renal dysfunction. The syndrome was not recognized prior to the advent of dialysis and renal transplantation because of its rapidly fatal course if renal failure is untreated. The first and only description of AMRF was in four French Canadian patients in three families (Andermann et al., 1986). We now describe 15 individuals with AMRF from five countries, including a follow-up of the four French Canadian patients, allowing a more complete characterization of this disease. Our 15 patients with AMRF belong to nine different families. Segregation analyses were compatible with a..

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