RESUMEN
The concentrations of glucose, pyruvate and lactate were determined in the blood and lumbar CSF of 63 patients with neuromuscular disorders and 40 controls. The glucose/lactate and lactate/pyruvate ratios were also calculated, in addition to the cytoplasmic NADH/NAD+ (nicotinamide-adenine dinucleotide-H/nicotinamide-adenine dinucleotide) ratio in the brain. Remarkable deviations from control values were found not only in blood but also in the CSF of patients with different neuromuscular diseases, particularly in Duchenne muscular dystrophy and peroneal muscular atrophy, indicative of disturbance of the carbohydrate metabolism in the central nervous system.
Asunto(s)
Enfermedades Neuromusculares/sangre , Glucemia/análisis , Química Encefálica , Glucosa/líquido cefalorraquídeo , Humanos , Lactatos/sangre , Lactatos/líquido cefalorraquídeo , NAD/sangre , NAD/líquido cefalorraquídeo , Enfermedades Neuromusculares/líquido cefalorraquídeo , Piruvatos/sangre , Piruvatos/líquido cefalorraquídeo , Ácido PirúvicoAsunto(s)
Atrofia Muscular/genética , Enfermedades de la Médula Espinal/genética , Adulto , Preescolar , Electromiografía , Femenino , Humanos , Masculino , Músculos/ultraestructura , Atrofia Muscular/epidemiología , Atrofia Muscular/patología , Enfermedades Neuromusculares/epidemiología , Enfermedades Neuromusculares/genética , Enfermedades Neuromusculares/patología , Linaje , Enfermedades de la Médula Espinal/epidemiología , SíndromeRESUMEN
The CPK, aldolase, GOT, GPT, and LDH concentrations in the serum and lumbar CSF of 80 patients with neuromuscular diseases and 20 controls were measured. The value obtained in serum was essentially in agreement with the data in the literature. This is the first publications reporting on regular CSF enzyme examinations in different neuromuscular disorders, particularly the results obtained in neurogenic muscular atrophies, which have certain characteristic features. The LDH activity in CSF was decreased in peroneal muscular atrophy, the GPT concentration in CSF was elevated in spinal muscular atrophy, and the mean activity of CSF aldolase was increased in amyotrophic lateral sclerosis. The simultaneous determination of enzymes in serum and CSF can provide valuable information in the research of certain details of pathomechanisms and thus lead to further improvement of diagnosis.
Asunto(s)
Enzimas/líquido cefalorraquídeo , Enfermedades Neuromusculares/enzimología , Alanina Transaminasa/líquido cefalorraquídeo , Aspartato Aminotransferasas/líquido cefalorraquídeo , Creatina Quinasa/líquido cefalorraquídeo , Fructosa-Bifosfato Aldolasa/líquido cefalorraquídeo , Humanos , L-Lactato Deshidrogenasa/líquido cefalorraquídeo , Atrofia Muscular/enzimología , Distrofias Musculares/enzimología , Miastenia Gravis/enzimología , Miotonía Congénita/enzimologíaRESUMEN
The Na+, K+, Ca2+, Mg2+, Cl-, and Pi concentrations in serum and lumbar CSF of 17 controls and 62 patients with neuromuscular diseases were determined and the values statistically evaluated. Although alterations in ion concentrations specific to different groups were not observed in either of these biological fluids, the significant increase in serum Pi concentration in Duchenne muscular dystrophy seems to be remarkable. It is suggested that the possible alterations in the ion content of the serum and CSF may contribute additional data to the diagnosis of various neuromuscular diseases.