(CAG)/Q EXPANSION DISORDERS

摘要

One aspect of the present invention relates to a method of diagnosing a (CAG)n/Qn-expansion disorder in an individual by obtaining a sample from an individual and determining whether the sample contains a concentration of N< epsilon >-(L- gamma -glutamyl)-L-lysine which is elevated in comparison to a normal concentration of N< epsilon >-(L- gamma -glutamyl)-L-lysine. A related aspect of the invention relates to a method of measuring progression of a (CAG)n/Qn-expansion disorder by obtaining a first sample from an individual, determining a first concentration of N< epsilon >-(L- gamma -glutamyl)-L-lysine in the first sample, obtaining a second sample from the individual at a time after the first sample is obtained, and determining a second concentration of N< epsilon >-(L- gamma -glutamyl)-L-lysine in the second sample, wherein progression of a (CAG)n/Qn-expansion disorder is indicated by the second concentration being higher than the first concentration. A further aspect of the invention relates to a method of measuring therapeutic efficacy of a treatment for a (CAG)n/Qn-expansion disorder by obtaining a first sample from an individual, determining a first concentration of N< epsilon >-(L- gamma -glutamyl)-L-lysine in the first sample, providing the individual with a treatment for a (CAG)n/Qn-expansion disorder, obtaining a second sample from the individual after providing the individual with the treatment, determining a second concentration of N< epsilon >-(L- gamma -glutamyl)-L-lysine in the second sample, and comparing the second concentration to the first concentration to measure the therapeutic efficacy of the treatment for a (CAG)n/Qn-expansion disorder.