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Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature
TLDR
It is concluded that VRS on MR images of healthy individuals are normal findings, even if they are dilated, and a judgement on whether dilated VRS in an individual patient is a normal variant or part of a disease process can be made by taking into account the appearance of the adjacent tissue on MRI and the clinical context. Expand
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
TLDR
Treatment with L-DOPA resulted in normalisation of the CSF homovanillic acid concentration and a sustained improvement in parkinsonian symptoms, and expression studies are compatible with the severe clinical phenotype of the L205P homozygous patient carrying this recessively inherited mutation. Expand
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
TLDR
Maintenance of optimal PLP levels in the brain may be important in many neurological disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon). Expand
Guanidinoacetate methyltransferase deficiency: new clinical features.
TLDR
A patient who presented with epilepsy, global developmental delay, and a persistently low plasma creatinine level was described, and the clinical and biochemical abnormalities responded to creatine replacement. Expand
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway
TLDR
It is shown that demyelination is associated with cerebrospinal-fluid S-adenosylmethionine deficiency and that restoration of S- adenosylnethyltetrahydrofolate isassociated with remyelinated. Expand
Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population
TLDR
There was a continuous decrement in CSF HVA, HIAA, and BH4 during the first few years of life; this was independent of height (or length). Expand
The effect of genotype on the natural history of eIF2B-related leukodystrophies
TLDR
The degree of eif2B dysfunction, which is involved in the regulation of protein synthesis during cellular stress, may play a role in the clinical expression of eIF2B-related disorders. Expand
Physiology and pathophysiology of organic acids in cerebrospinal fluid
TLDR
Studies of organic acids in CSF and plasma samples are presented from patients with ‘cerebral’ lactic acidosis, disorders of propionate and methylmalonate metabolism, glutaryl-CoA dehydrogenase deficiency andl-2-hydroxyglutaric acidura, it became apparent that derangements oforganic acids in the CSF may occur independently of the systemic metabolism. Expand
The neurochemistry of phenylketonuria
TLDR
The severe brain disease found in phenylketonuria is caused by a raised blood phenylalanine content which increases the brain free phenylAlanine and decreases the concentration of other large neutral amino acids. Expand
Encephalitis lethargica syndrome: 20 new cases and evidence of basal ganglia autoimmunity.
TLDR
Investigation found no evidence of viral encephalitis or other recognized causes of rapid-onset parkinsonism, and investigated the possibility that this phenotype could be a postinfectious autoimmune CNS disorder, and therefore similar to Sydenham's chorea. Expand
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