Autosomal dominant spinocerebellar ataxias: an Asian perspective.
Autosomal dominant cerebellar ataxias, frequently referred to as spinocerebellar ataxias (SCAs) have been under intense scientific research limelight since expansions of coded CAG trinucleotide repeats were demonstrated to cause several dominantly inherited SCAs. The number of new SCA loci has expanded dramatically in recent years. At least ten genes have been identified for SCAs 1, 2, 3, 6, 7, 8, 10, 12, 17, dentatorubral-pallidoluysian atrophy (DRPLA), and six loci responsible for SCAs 4, 5, 11,13, 14, and 16 have been mapped. Genetic testing is essential for diagnosis due to the overlapping and varied phenotypic features of the different SCAs. While there is no effective treatment available, genetic counseling is important for addressing the many ethical, social, legal, and psychological issues facing SCA patients. Researchers have recently provided valuable information on the pathogenesis of the disease and hopefully a cure will be available in the near future.
Tan
E K
EK
Department of Neurology, Singapore General Hospital, Singapore. gnrtek@sgh.com.sg
D044466:Asian People / Q000235:genetics*; D005838:Genotype; D006801:Humans; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology*