Genetic ataxia.
Advances in molecular genetics have led to identification of an increasing number of genes responsible for inherited ataxic disorders. Consequently, DNA testing has become a powerful method to unambiguously establish the diagnosis in some of these disorders; however, there are limitations in this approach. Furthermore, the ethical, social, legal and psychological implications of the genetic test results are complex, necessitating appropriate counseling. This article intends to help the practicing neurologist clinically differentiate these disorders, choose appropriate genetic tests, and recognize the importance of counseling.
Rosa
Alberto L
AL
Universidad de Córdoba, Laboratory of Neurogenetics, Institute for Medical Research Mercedes y Martín Ferreyra-INIMEC, Carrer Researcher of the National Research Council (CONICET), Córdoba, Argentina.
Ashizawa
Tetsuo
T
D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling / Q000941:ethics; D005820:Genetic Testing / Q000941:ethics; D005828:Genetics, Population; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000941:ethics*; D012729:Sex Chromosome Aberrations; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000175:diagnosis / Q000235:genetics*
D004247:DNA