{"title":"亨廷顿氏病——患者及其后代脑脊液中游离氨基酸失衡。","authors":"G Oepen, H Cramer, R Bernasconi, P Martin","doi":"10.1007/BF00343834","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":55482,"journal":{"name":"Archiv Fur Psychiatrie Und Nervenkrankheiten","volume":"231 2","pages":"131-40"},"PeriodicalIF":0.0000,"publicationDate":"1982-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00343834","citationCount":"11","resultStr":"{\"title\":\"Huntington's disease - imbalance of free amino acids in the cerebrospinal fluid of patients and offspring at-risk.\",\"authors\":\"G Oepen, H Cramer, R Bernasconi, P Martin\",\"doi\":\"10.1007/BF00343834\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":55482,\"journal\":{\"name\":\"Archiv Fur Psychiatrie Und Nervenkrankheiten\",\"volume\":\"231 2\",\"pages\":\"131-40\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1982-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1007/BF00343834\",\"citationCount\":\"11\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archiv Fur Psychiatrie Und Nervenkrankheiten\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/BF00343834\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archiv Fur Psychiatrie Und Nervenkrankheiten","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/BF00343834","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.
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