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

doi:10.1136/jnnp.66.1.86

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Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 1999

Robinson R, McCarthy G T, Bandmann O, Dobbie M, Surtees R, Wood N W

Abstract excerpt

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 responsiv...

Topics

Antiparkinson Agents
Child
Chromosomes, Human, Pair 14
Dystonia
GTP Cyclohydrolase
Humans
Levodopa
Male
Pedigree
Phenotype
Point Mutation
Treatment Outcome

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