RESUMO
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.
Assuntos
Aminoácidos/líquido cefalorraquidiano , Carnosina/líquido cefalorraquidiano , Dipeptídeos/líquido cefalorraquidiano , Espasticidade Muscular/genética , Paraplegia/genética , Adulto , Idoso , Carnosina/análogos & derivados , Feminino , Genes Dominantes , Genes Recessivos , Humanos , Masculino , Espasticidade Muscular/líquido cefalorraquidiano , Paraplegia/líquido cefalorraquidianoRESUMO
Homocarnosine, the brain-specific dipeptide of gamma-aminobutyric acid (GABA) and histidine, was found to be elevated in the CSF, i.e. approximately 20 times the mean control level, in two brothers and one sister. All three were similarly afflicted, i.e. with a progressive spastic paraplegia, progressive mental deterioration and retinal pigmentation. A sister was healthy, and there was no other occurrence of similar symptoms in the family. The clinical symptoms in the affected individuals seem to differ from those in other reported families. The unaffected sister, the father and two maternal aunts exhibited a normal CSF homocarnosine level, whereas the mother, who showed no definite clinical symptoms, showed a markedly elevated CSF homocarnosine level. The explanation for the latter finding remains obscure.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Carnosina/metabolismo , Dipeptídeos/metabolismo , Deficiência Intelectual/genética , Paraplegia/genética , Retinose Pigmentar/genética , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Carnosina/líquido cefalorraquidiano , Feminino , Humanos , Deficiência Intelectual/metabolismo , Masculino , Paraplegia/metabolismo , Retinose Pigmentar/metabolismoRESUMO
The concentrations of unbound amino acids in erythrocytes and in plasma from 7 normal individuals, 11 patients with various types of aregeneratory anaemia, and 4 patients with hereditary haemolytic anaemias were determined on a Technicon Amino Acid Analyzer (Perry et al 1970). Most amino acids were normally found in higher concentrations in plasma than intracellularly. Cystine, methionine and trypotophan were almost exclusively present in plasma. Aspartic acid, however, was mainly found in erythrocytes, and glutathione only in erythrocytes. Glutamic acid and ornithine were more concentrated in the cells, while glycine and asparagine showed approximately the same concentrations in erythrocytes as in plasma. In the patients, plasma amino acids showed little deviations from normal, but in the erythrocytes there were striking changes. Erythrocyte glutamic acid concentrations were moderately to markedly elevated in all patients studied, and glycine concentrations in 13 out of 15 patients. In addition, the following amino acids were increased intracellularly in more than one patient: glutamine (8 patients), serine (7), asparagine (5), threonine (4), taurine (3), alanine (2), valine (2), ornithine (2), lysine (2), citrulline (2). Aspartic acid was decreased in erythrocytes from 4 patients with aregeneratory and 1 with haemolytic anaemia.
