[en] Patients with Duchenne muscular dystrophy (DMD) commonly show specific cognitive deficits in addition to a severe muscle impairment caused by the absence of dystrophin expression in skeletal muscle. These cognitive deficits have been related to the absence of dystrophin in specific regions of the central nervous system, notably cerebellar Purkinje cells (PCs). Dystrophin has recently been involved in GABAA receptors clustering at postsynaptic densities, and its absence, by disrupting this clustering, leads to decreased inhibitory input to PC. We performed an in vivo electrophysiological study of the dystrophin-deficient muscular dystrophy X-linked (mdx) mouse model of DMD to compare PC firing and local field potential (LFP) in alert mdx and control C57Bl/10 mice. We found that the absence of dystrophin is associated with altered PC firing and the emergence of fast (~160-200 Hz) LFP oscillations in the cerebellar cortex of alert mdx mice. These abnormalities were not related to the disrupted expression of calcium-binding proteins in cerebellar PC. We also demonstrate that cerebellar long-term depression is altered in alert mdx mice. Finally, mdx mice displayed a force weakness, mild impairment of motor coordination and balance during behavioural tests. These findings demonstrate the existence of cerebellar dysfunction in mdx mice. A similar cerebellar dysfunction may contribute to the cognitive deficits observed in patients with DMD.
Disciplines :
Pediatrics
Author, co-author :
Prigogine, Cynthia; Laboratory of Neurophysiology and Movement Biomechanics, Université Libre de Bruxelles, Brussels, Belgium ; Laboratory of Electrophysiology, Université de Mons, Mons, Belgium
Ruiz, Javier Marquez; Division of Neurosciences, Universidad Pablo de Olavide, Sevilla, Spain
Cebolla, Ana Maria ; Laboratory of Neurophysiology and Movement Biomechanics, Université Libre de Bruxelles, Brussels, Belgium
Deconinck, Nicolas; Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; Institut de Myologie, APHP Pitié-Salpêtrière, Paris, France
Gailly, Philippe ; Université de Liège - ULiège ; Laboratory of Cell Physiology, Université Catholique de Louvain, Brussels, Belgium
Dan, Bernard; Laboratory of Neurophysiology and Movement Biomechanics, Université Libre de Bruxelles, Brussels, Belgium ; Rehabilitation Hospital Inkendaal, Vlezenbeek, Belgium
Cheron, Guy ; Laboratory of Neurophysiology and Movement Biomechanics, Université Libre de Bruxelles, Brussels, Belgium ; Laboratory of Electrophysiology, Université de Mons, Mons, Belgium
Language :
English
Title :
Cerebellar dysfunction in the mdx mouse model of Duchenne muscular dystrophy: An electrophysiological and behavioural study.
The authors would like to thank J. Francq and S. Henuy for providing excellent animal care; M. Dufief, E. Toussaint, T. D'Angelo, E. Hortmanns and M. Petieau for expert technical assistance; O. Shackman for his assistance with the behavioural testing; D. Ristori for statistical analysis. This work was supported in part by grants from the Fonds National de la Recherche Scientifique (FNRS) (Belgium), Fonds de Recherche de l'Universit\u00E9 Libre de Bruxelles (Belgium), Fonds de Recherche de l'Universit\u00E9 de Mons (Belgium), from the Brain & Society Foundation (Belgium) and Leibu Fond (Belgium). C. Prigogine was supported by a research fellowship/assistant of the Fonds National de la Recherche Scientifique (FNRS), Belgium.
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