title: Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle.
abstract: Friedreich ataxia is the most common autosomal recessive disorder of the cerebellum, causing degeneration of spinal sensory neurons and spinocerebellar tracts. The disease is caused by severely reduced levels of frataxin, a mitochondrial protein involved in iron metabolism. An experimental model has been generated by crossing mice homozygous for a conditional allele of the Fxn gene with mice heterozygous for a deleted exon 4 of Fxn carrying a tissue-specific Cre transgene under control of the muscle creatine kinase promoter. Relative to wild-type, Fxn null mutants were impaired on tests of motor coordination comprising horizontal bar, vertical pole, and the rotorod as well as displaying gait anomalies and the hindlimb clasping response. The Fxn KO/Mck model reproduces some key features of patients with Friedreich ataxia and provides an opportunity of ameliorating their symptoms with experimental therapies.
authors.affiliation: Plateforme d׳analyse fonctionnelle du comportement animal, Axe Neurosciences, Centre Hospitalier Universitaire de Québec, Département de Médecine Moléculaire, Faculté de Médecine Université Laval, Canada. Electronic address: mohammed.filali@crchul.ulaval.ca.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Filali
authors.affiliation: Université de Rouen, Faculté de Sciences and Département de Psychologie, Laboratoire ICONES EA 4699, 76821 Mont-Saint-Aignan, France.
authors.forename: Robert
authors.initials: R
authors.lastname: Lalonde
authors.affiliation: Plateforme d׳analyse fonctionnelle du comportement animal, Axe Neurosciences, Centre Hospitalier Universitaire de Québec, Département de Médecine Moléculaire, Faculté de Médecine Université Laval, Canada.
authors.forename: Catherine
authors.initials: C
authors.lastname: Gérard
authors.affiliation: Plateforme d׳analyse fonctionnelle du comportement animal, Axe Neurosciences, Centre Hospitalier Universitaire de Québec, Département de Médecine Moléculaire, Faculté de Médecine Université Laval, Canada.
authors.forename: Zoé
authors.initials: Z
authors.lastname: Coulombe
authors.affiliation: Plateforme d׳analyse fonctionnelle du comportement animal, Axe Neurosciences, Centre Hospitalier Universitaire de Québec, Département de Médecine Moléculaire, Faculté de Médecine Université Laval, Canada.
authors.forename: Jacques P
authors.initials: JP
authors.lastname: Tremblay
mesh_terms: D000367:Age Factors; D000818:Animals; D001835:Body Weight / Q000235:genetics; D004268:DNA-Binding Proteins; D004195:Disease Models, Animal; D004924:Escape Reaction / Q000502:physiology; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications* / Q000473:pathology*; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D008297:Male; D051379:Mice; D008822:Mice, Transgenic; D009043:Motor Activity / Q000235:genetics; D053580:Muscle Strength / Q000235:genetics*; D009132:Muscles / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D010751:Phosphopyruvate Hydratase; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D011596:Psychomotor Disorders / Q000209:etiology* / Q000235:genetics; D000096923:Frataxin
chemical_list: D004268:DNA-Binding Proteins; D033862:Iron-Binding Proteins; D010751:Phosphopyruvate Hydratase; D011506:Proteins; D000096923:Frataxin; C490652:Ckn1 protein, mouse
keywords: Ataxic models; Hindlimb clasping; Hot-plate; Motor activity; Motor coordination; Rotorod; Sensorimotor systems