GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness

A family with a dominant form of partial GTP cyclohydrolase deficiency is described. Clinical severity varied from mild involvement with complete responsiveness to levodopa to severe dystonia precluding any voluntary activity including talking, progressive contractures, and only partial responsivene...

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Bibliographic Details
Published in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1999-01, Vol.66 (1), p.86-89
Main Authors: Robinson, Richard, McCarthy, Gillian T, Bandmann, Oliver, Dobbie, Michael, Surtees, Robert, Wood, Nicholas W
Format: Article
Language:English
Subjects:
Antiparkinson Agents - therapeutic use
Ataxia
Biological and medical sciences
Cerebral palsy
Child
Chromosomes, Human, Pair 14 - genetics
Dopamine
Dystonia
Dystonia - drug therapy
Dystonia - etiology
Dystonia - genetics
Enzymes
Genotype & phenotype
GTP cyclohydrolase
GTP Cyclohydrolase - deficiency
GTP Cyclohydrolase - genetics
Humans
levodopa
Levodopa - therapeutic use
Male
Medical sciences
Medical screening
Mutation
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Pedigree
Phenotype
phenotype gene expression
Point Mutation - genetics
Short Report
Treatment Outcome
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Description
Summary:A family with a dominant form of partial GTP cyclohydrolase deficiency is described. Clinical severity varied from mild involvement with complete responsiveness to levodopa to severe dystonia precluding any voluntary activity including talking, progressive contractures, and only partial responsiveness to levodopa. Although there are several possible reasons for intrafamilial variability, any patient with dystonia, the cause of which is not clearly identified, should receive a trial of levodopa.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp.66.1.86