Author pages are created from data sourced from our academic publisher partnerships and public sources.
Share This Author
Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature
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.
- B. Lüdecke, P. Knappskog, +6 authors T. Flatmark
- Biology, Medicine
- Human molecular genetics
- 1 July 1996
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.
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.
- V. Ganesan, A. Johnson, A. Connelly, S. Eckhardt, R. Surtees
- Biology, Medicine
- Pediatric neurology
- 1 September 1997
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
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
- K. Hyland, R. Surtees, S. Heales, A. Bowron, D. Howells, I. Smith
- Pediatric Research
- 1 July 1993
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
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
- G. Hoffmann, W. Meier-Augenstein, S. Stöckler, R. Surtees, D. Rating, W. Nyhan
- Chemistry, Medicine
- Journal of Inherited Metabolic Disease
- 1 July 1993
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
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.
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