SCA-23 (SPINOCEREBELLAR ATAXIA): PDYN GENE MUTATION

SCA23 IS A VERY RARE SUBTYPE OF TYPE I AUTOSOMAL DOMINANT CEREBELLAR ATAXIA (ADCA TYPE I). ADCA I IS CHARACTERIZED BY CEREBELLAR ATAXIA IN COMBINATION WITH VARIOUS ASSOCIATED NEUROLOGIC FEATURES, SUCH AS OPHTHALMOPLEGIA, PYRAMIDAL AND EXTRAPYRAMIDAL SIGNS, PERIPHERAL NEUROPATHY AND DEMENTIA AMONG OTHERS. SCA-23 IS AN ADULT-ONSET NEURODEGENERATIVE DISORDER CHARACTERIZED BY SLOWLY PROGRESSIVE GAIT AND LIMB ATAXIA, WITH VARIABLE ADDITIONAL FEATURES, INCLUDING PERIPHERAL NEUROPATHY AND DYSARTHRIA. MAJORITY ARE CAUSED BY HETEROZYGOUS MUTATIONS IN EXON 4 OF PDYN GENE.