(CAG)/Q expansion disorders
US6548243B1 · kind B1 · utility
Assignee
Inventors
Key dates
| Filing date | Mar 13, 2001 |
| Grant date | Apr 15, 2003 |
| Priority date | — |
| Expiry date | Mar 13, 2021 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG01N33/6893
- WIPO fieldMeasurement
- WIPO sectorInstruments
Abstract
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 N&egr;-(L-&ggr;-glutamyl)-L-lysine; and determining whether the test solution contains a concentration of the o-phthaldialdehyde derivative of N&egr;-(L-&ggr;-glutamyl)-L-lysine which is elevated in comparison to a normal concentration of the o-phthaldialdehyde derivative of N&egr;-(L-&ggr;-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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.