L-2-Hydroxyglutaric acidaemia represents a newly defined inborn error of metabolism, with increased levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. The concentration in cerebrospinal fluid is higher than in plasma. The other consistent biochemical finding is an increase of lysine in blood and cerebrospinal fluid, but lysine loading does not increase L-2-hydroxyglutaric acid concentration in plasma. This autosomal recessively inherited disease is expressed as progressive ataxia, mental deficiency with subcortical leukoencephalopathy and cerebellar atrophy on magnetic resonance imaging. Since these features were described in 8 patients by Barth and co-workers in 1992, 4 more patients with similar findings have been diagnosed and added to the present series. L-2-Hydroxyglutaric acid is found in only trace amounts on routine gas chromatographic screening in normal persons, and its origin, its fate and even its relevance to normal metabolism are unknown. Therefore its catabolism was studied in normal liver. Incubation of rat liver with L-2-hydroxyglutaric acid did not produce H2O2, which excluded (peroxisomal) L-2-hydroxyacid oxidase as the main route of catabolism. However, L-2-hydroxyglutaric acid is rapidly dehydrogenated if NAD+ is added as a co-factor to the standard reaction medium. This could also be demonstrated in human liver. The preliminary evidence for this enzyme activity in rats and humans, L-2-hydroxyglutaric acid dehydrogenase, is given. Further investigations are required to clarify the possible relevance to the metabolic defect in L-2-hydroxyglutaric acidaemia.
and immunochemical determination27-3b), the significance of the results has not been fully appreciated, and the data have sometimes been inconclusive.Study of the literature devoted to this subject is diacult because the selection of patients has varied and because clinical criteria have varied from one author to the next.Few authors have employed more than one technique on the same CSF sample except to compare the colloidal c u r v e s 5~8~9~1 0~~6~2 8 to one of the newer techniques. It is clear that there is need for reevaluation of existing literature.The present work is based on results obtained by agar gel electrophoresis and is concerned with a correlation between clinical parameters and different electrophoretic patterns of CSF proteins.
hlATERIALS AND METHODSPatient population. We reviewed the records of 2,043 patients who had been admitted to
982Neurology / Volume 20 / October 1970 the Neurological Department of the University Clinics and in whom CSF protein electrophoresis was performed. In 323 patients, the diagnosis was multiple sclerosis, designated as either definite, probable, or possible. The other patients were assigned to one of the diagnostic categories listed in Table 1. The diagnoses were based on clinical examination and technical procedures such as myelography, pneumoencephalography, arteriography, cerebral scintigraphy, electroencephalography, and routine CSF examination. The results of CSF protein electrophoresis were not considered in making the diagnosis. The different clinical and laboratory data concerning these cases of MS were plotted on IBM cards.Tentative correlations were established between electrophoretic patterns of CSF proteins and the duration and course of the disease, degree of disability, and diagnostic category, as well as the CSF cell count and total protein content. No attempt was made to categorize
Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were successfully stopped several years later. Mental outcome was also very good. The association of both conditions does not seem to be a coincidence. WS with NF1 seems remarkably benign and resembles idiopathic WS more than symptomatic WS.
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