Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment

✍ Scribed by Edoardo Ferlazzo; Domenico Italiano; Isabelle An; Tiziana Calarese; Virginie Laguitton; Placido Bramanti; Paolo Di Bella; Pierre Genton

• Book ID: 102506832
• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 214 KB
• Volume: 24
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.22489

✦ Synopsis

Abstract

We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic‐clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht‐Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis. © 2009 Movement Disorder Society