title: [Have centers of rare neurological diseases changed their practices and management of the hereditary cerebellar ataxias?].
abstract: The classification and management of hereditary cerebellar ataxias have been considerably changed by advances made in the field of genetics. Given the numerous genes implicated in the disorders, genetic analysis, which alone can confirm the diagnosis, needs to be based on phenotypically precise studies. Diagnostic algorithms including both recessive and dominant forms of ataxia have been proposed. The range of disease effects has been further expanded in the light of evidence of ataxias associated with permutations of the Fragile X gene, and ataxias linked to mutations of the nuclear genes coding for structural proteins of mitochondrial DNA. In the field of therapeutics, several studies are currently ongoing for Friedreich's ataxia.
authors: Centre de compétence des maladies neurologiques génétiques rares, Service de Neurologie, Hôpital de Hautepierre, avenue Molière, 67100 Strasbourg, France. christine.tranchant@chru-strasbourg.fr
authors: C
authors: C
authors: Tranchant
mesh_terms: D000465:Algorithms; D002524:Cerebellar Ataxia / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D004247:DNA / Q000235:genetics; D005600:Fragile X Syndrome / Q000235:genetics; D005602:France; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006077:Government Agencies; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000473:pathology; D009422:Nervous System Diseases / Q000145:classification / Q000628:therapy*; D035583:Rare Diseases / Q000145:classification / Q000628:therapy*
chemical_list: D004247:DNA