Homocarnosinosis. 3. Spinal fluid amino acids in familial spastic paraplegia.
Increased concentration of CSF homocarnosine has recently been found in a family with spastic paraplegia. CSF homocarnosine was therefore determined in 13 patients from other families with familial spastic paraplegia. Also examined were seven patients from families where the constellation of symptoms and signs was more complex, but also comprised spastic paraplegia, and five patients with non-familial spastic paraplegia. No changes were found in homocarnosine level. In one patient with spastic familial paraplegia clear elevation of threonine in the CSF was found. The affected brother showed no such abnormality. CSF homocarnosine elevation is thus no common denominator in familial spastic paraplegia.
D000328:Adult; D000368:Aged; D000596:Amino Acids / Q000134:cerebrospinal fluid*; D002336:Carnosine / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid*; D004151:Dipeptides / Q000134:cerebrospinal fluid*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000134:cerebrospinal fluid / Q000235:genetics*; D010264:Paraplegia / Q000134:cerebrospinal fluid / Q000235:genetics*
D000596:Amino Acids; D004151:Dipeptides; D002336:Carnosine