Spinocerebellar degenerations: an update.
Over the past decade, the spinocerebellar degenerations have gone from a diverse group of loosely defined phenotypes to a family of diseases with many identifiable genotypes and the promise of gene-specific treatments. The evaluation of the spinocerebellar ataxias has been simplified, and the counseling of patients and families has been enhanced by the growing number of molecular diagnostic tests now available. Management strategies remain symptomatic and focused on rehabilitation, with empirical use of antioxidants based on research in other neurogenetic diseases.
Perlman
Susan L
SL
Department of Neurology, UCLA School of Medicine, 300 UCLA Medical Plaza, Suite B200, Los Angeles, CA 90095, USA. sperlman@ucla.edu
D000818:Animals; D005838:Genotype; D006801:Humans; D008967:Molecular Biology; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics / Q000628:therapy