Huntington's Disease — Imbalance of free amino acids in the cerebrospinal fluid of patients and offspring at-risk

Research paper by G. Oepen, H. Cramer, R. Bernasconi, P. Martin

Indexed on: 01 Feb '82Published on: 01 Feb '82Published in: European archives of psychiatry and clinical neuroscience


A total of 27 different amino acids were determined in the fasting, morning lumbar CSF of 12 patients with Huntington's Disease (HD), 8 at-risk offspring and 16 non-choreic control patients. A significant (P<0.001) decrease was observed for asparagine, isoleucine, leucine, phenylalanine, histidine, arginine, α-aminoadipic acid and homocarnosine in patients with HD compared to the non-choreic controls. Only tyrosine was increased in HD. These alterations were to an extent more pronounced in 5 neurophysiologically conspicuous offspring. The alterations suggest that amino acid imbalance is an early metabolic disturbance in HD.