Huntington's disease - imbalance of free amino acids in the cerebrospinal fluid of patients and offspring at-risk.
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 less than 0.001) decrease was observed for asparagine, isoleucine, leucine, phenylalanine, histidine, arginine, alpha-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.
D000596:Amino Acids / Q000134:cerebrospinal fluid*; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000134:cerebrospinal fluid* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012306:Risk
D000596:Amino Acids