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Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment
Author(s) -
Ferlazzo Edoardo,
Italiano Domenico,
An Isabelle,
Calarese Tiziana,
Laguitton Virginie,
Bramanti Placido,
Di Bella Paolo,
Genton Pierre
Publication year - 2009
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22489
Subject(s) - myoclonus , progressive myoclonus epilepsy , epilepsy , degenerative disease , pediatrics , medicine , disease , neurological disorder , central nervous system disease , psychology , psychiatry , neuroscience , pathology
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