APPLICATION OF APRATAXIN GENE TO DIAGNOSIS AND TREATMENT FOREARLY-ONSET SPINOCEREBELLAR ATAXIA (EAOH)

摘要

The present invention provides an aprataxin gene involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) and a protein encoded by the gene; and application of a mutant aprataxin gene involved in the onset of EAOH and a protein encoded by the mutant gene to treatment and diagnosis of the disease. The present invention also provides a human aprataxin protein or a gene for treatment of early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and a human aprataxin gene DNA or fragments thereof for detecting EAOH.