be related to a lysosomal storage disorder. However, they were unable to identify a specific lysosomal enzyme abnormality. In summary, we have described the pathological features of muscle biopsy specimens from 3 infantile cases of Marinesco-S jogren syndrome. W e have identified an unusual ultrast
Huntington's Disease — Imbalance of free amino acids in the cerebrospinal fluid of patients and offspring at-risk
✍ Scribed by G. Oepen; H. Cramer; R. Bernasconi; P. Martin
- Publisher
- Springer-Verlag
- Year
- 1982
- Tongue
- English
- Weight
- 559 KB
- Volume
- 231
- Category
- Article
- ISSN
- 1433-8491
No coin nor oath required. For personal study only.
✦ Synopsis
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.
📜 SIMILAR VOLUMES
Glutamic acid levels were investigated in the cerebrospinal fluid and blood serum of patients with schizophrenia, Huntington's chorea, and sciatic nerve compression by lumbar disc protrusion. In the serum the glutamic acid levels were equal in all three groups; in the cerebrospinal fluid (CSF) of sc