Cornell University

Arthur J L Cooper

John P Blass

A method of diagnosing a (CAG) /Q -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 -(L-&ggr;-glutamyl)-L-lysine; and determining whether the test solution contains a concentration of the o-phthaldialdehyde derivative of N -(L-&ggr;-glutamyl)-L-lysine which is elevated in comparison to a normal concentration of the o-phthaldialdehyde derivative of N -(L-&ggr;-glutamyl)-L-lysine, wherein an elevated concentration in the test solution indicates that the individual has a (CAG) /Q -expansion disorder. Also disclosed are methods of measuring progression of a (CAG) /Q -expansion disorder and measuring therapeutic efficacy of a treatment for a (CAG) /Q -expansion disorder.

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Croton on Hudson, NY, United States of America

Arthur J L Cooper