Some genetic and biochemical aspects of myoclonus.
Can a gene defect be responsible for the occurrence in an individual, at a particular age, of such a muscle twitch followed by relaxation called: "myoclonus" and defined as sudden, brief, shock-like movements? Genetic defects could indeed determine a subsequent cascade of molecular events (caused by abnormal encoded proteins) that would produce new aberrant cellular relationships in a particular area of the CNS leading to re-built "myoclonogenic" neuronal networks. This can be illustrated reviewing some inherited neurological entities that are characterized by a predominant myoclonic picture and among which a clear gene defect has been identified. In the second part of this chapter, we will also propose a new point of view on how some structural genes could, under certain conditions, when altered, produced idiopathic generalized epilepsy with myoclonic jerks, taking juvenile myoclonic epilepsy (JME) and the myoclonin (EFHC-1) gene as examples.
Grisar
T
T
Center for Cellular and Molecular Neurobiology, University of Liege, 1, avenue de l'Hôpital, B-36, 4000 Liège, Belgium. tgrisar@ulg.ac.be
de Nijs
L
L
Chanas
G
G
Léon
C
C
Coumans
B
B
Foidart
A
A
Lakaye
B
B
D000328:Adult; D000818:Animals; D001921:Brain / Q000196:embryology / Q000378:metabolism; D019556:COS Cells; D002135:Calcium-Binding Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D002460:Cell Line; D002648:Child; D002522:Chlorocebus aethiops; D006224:Cricetinae; D018450:Disease Progression; D004831:Epilepsies, Myoclonic / Q000145:classification / Q000235:genetics / Q000503:physiopathology; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics; D006367:HeLa Cells; D006801:Humans; D008647:Mesocricetus; D051379:Mice; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics; D009207:Myoclonus / Q000145:classification / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D009474:Neurons / Q000378:metabolism; D008941:Spindle Apparatus / Q000378:metabolism; D013577:Syndrome; D014162:Transfection
D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human; C520734:EFHC1 protein, mouse