We studied both cerebrospinal fluid (CSF) and serum of 11 patients suffering from Huntington's disease (HD) and 12 control subjects by combining high resolution proton NMR spectroscopy and HPLC. NMR spectroscopy analysis of the CSF shows a significant increase (60%) in pyruvate concentration in HD patients. No unexpected molecules were detected. Glutamate, glutamine, aspartate, proline and GABA levels were found unchanged in the CSF of HD patients, using HPLC analysis. Conversely, a significant increase (30%) in the CSF level of glycine was detected. These observations are in agreement with the metabolic hypothesis of HD physiopathogenesis. In addition, the protocol combining NMR spectroscopy and HPLC provides a straightforward evaluation of brain metabolic status and blood-brain-barrier function.
Nicoli, F., Viondury, J., Maloteaux, J.-M., Delwaide, C., Confortgouny, S., Sciaky, M., & Cozzone, PJ. (1993). Csf and Serum Metabolic Profile of Patients With Huntingtons-chorea - a Study By High-resolution Proton Nmr-spectroscopy and Hplc. Neuroscience Letters, 154(1-2), 47-51. https://doi.org/10.1016/0304-3940(93)90168-K (Original work published 1993)