Some genetic and biochemical aspects of myoclonus

[en] 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-builded "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. (c) 2007 Elsevier Masson SAS. All rights reserved.

Disciplines :

Neurology
Neurosciences & behavior
Anatomy (cytology, histology, embryology...) & physiology

Author, co-author :

Grisar, Thierry ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique

de Nijs, Laurence ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique

Chanas, G.

Leon, Christine ; Université de Liège - ULiège > CNCM/ Centre fac. de rech. en neurobiologie cell. et moléc.

Coumans, Bernard ; Université de Liège - ULiège > CNCM/ Centre fac. de rech. en neurobiologie cell. et moléc.

Foidart, Agnès ; Université de Liège - ULiège > Services généraux (Faculté de médecine) > Service administratif de la Faculté (Médecine)

Lakaye, Bernard ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique

Language :

English

Title :

Some genetic and biochemical aspects of myoclonus

Publication date :

2006

Journal title :

Neurophysiologie Clinique

ISSN :

0987-7053

eISSN :

1769-7131

Publisher :

Elsevier France-Editions Scientifiques Medicales Elsevier, Paris, France

Volume :

Issue :

5-6, Sep-Dec

Pages :

271-279

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 05 November 2009

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