Les caractéristiques neuropsychologiques de l’ataxie de Friedreich (2002), Robert Lalonde, Catherine Strazielle Résumé L’ataxie de Friedreich provient de l’expansion du triplet guanine-adénine-adénine du gène FRDA. Les patients se caractérisent par d’importants troubles sensorimoteurs causés par une dégénérescence cérébelleuse associée à des lésions majeures des voies spino-cérébelleuses, corticos pinales et lemniscates....

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 (1999), A. Richter, John D. Rioux, J.-P. Bouchard, J. Mercier, J. Mathieu, Bing Ge, J. Poirier, D. Julien, G. Gyapay, J. Weissenbach, T. J. Hudson, S. B. Melançon, K. Morgan [Funded...

Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study (1996), M. I. Botez, Therese Botez-Marquard, Robert Elie, Olga-Lucia Pedraza, Kristine Goyette, Robert Lalonde Abstract Objective-A group of 27 patients with Friedreich’s ataxia and another group of 30 patients with olivopontocerebellar atrophies were each randomly divided into two subgroups, one...

Linkage Studies of Friedreich Ataxia by Means of Blood-Group and Protein Markers (1987), B. J. B. Keats, L. J. Ward, M. Lu, S. Krieger, M. A. Wilensky, C. J. Foster-Gibson, M. Roy, M. Monté, A. Barbeau, N. E. Simpson, H. Eiberg, P. Tippett, R. Williamson, S. Chamberlain SUMMARY Friedreich ataxia...

Abstract Does scoliosis associated with Friedreich’s ataxia behave like an idiopathic or a typical neuromuscular scoliosis? Should it be treated like an idiopathic or a neuromuscular curve? Since no precise information to answer these questions could be found in the orthopaedic literature, a retrospective study was undertaken of seventy-eight patients...