| 摘要 |
A method of diagnosing a (CAG)n/Qn-expansion disorder in an individual, said method including: obtaining a sample from an individual; combining the sample with o-phthaldialdehyde under conditions effective to form a test solution comprising an o-phthaldialdehyde derivative of Nepsi-(L-gamma-glutamyl)-L-lysine; and determining whether the test solution contains a concentration of the o-phthaldialdehyde derivative of Nepsi-(L-gamma-glutamyl)-L-lysine which is elevated in comparison to a normal concentration of the o-phthaldialdehyde derivative of Nepsi-(L-gamma-glutamyl)-L-lysine, wherein an elevated concentration in the test solution indicates that the individual has a (CAG)n/Qn-expansion disorder. Also disclosed are methods of measuring progression of a (CAG)n/Qn-expansion disorder and measuring therapeutic efficacy of a treatment for a (CAG)n/Qn-expansion disorder. |
