George W Padberg1, Baziel Gm van Engelen. 1. Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. g.padberg@neuro.umcn.nl
Abstract
PURPOSE OF REVIEW: Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front. RECENT FINDINGS: The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle development pathways and possibly vascular development pathways as well, which feeds into ideas about homeobox-related transcriptional dysregulation, which was originally suggested, based on the apparent descending order of muscle weakness. SUMMARY: The present findings and observations set a broad agenda for further research and possible therapeutic targets.
PURPOSE OF REVIEW: Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front. RECENT FINDINGS: The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle development pathways and possibly vascular development pathways as well, which feeds into ideas about homeobox-related transcriptional dysregulation, which was originally suggested, based on the apparent descending order of muscle weakness. SUMMARY: The present findings and observations set a broad agenda for further research and possible therapeutic targets.
Authors: Sabrina Sacconi; Audrey Briand-Suleau; Marilyn Gros; Christian Baudoin; Richard J L F Lemmers; Sophie Rondeau; Nadira Lagha; Pilvi Nigumann; Chiara Cambieri; Angela Puma; Françoise Chapon; Tanya Stojkovic; Christophe Vial; Françoise Bouhour; Michelangelo Cao; Elena Pegoraro; Philippe Petiot; Anthony Behin; Bras Marc; Bruno Eymard; Andoni Echaniz-Laguna; Pascal Laforet; Leonardo Salviati; Marc Jeanpierre; Gaël Cristofari; Silvère M van der Maarel Journal: Neurology Date: 2019-04-12 Impact factor: 9.910
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