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

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 responsiveness to levodopa. Although there are several possible reasons for intrafamilial variability, any pa...

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

BACKGROUND Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms. OBJECTIVE To delineate the neurological and psychiatric phenotype in all affected individuals of three extended families. METHODS GTP cyclohydrolase deficie...

Defect in GTP-cyclohydrolase

Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus.

PURPOSE To evaluate the intrafamilial phenotypic variation in Stargardt macular dystrophy-Fundus flavimaculatus (SMD-FFM). METHODS Thirty-one siblings from 15 families with SMD-FFM were examined. Age of onset, visual acuity, and clinical features on fundus examination and fundus autofluorescence images, including presence or absence of central and peripheral atrophy and distribution of flecks...

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

AIMS To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian families with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation, were compared [corrected]. Individuals without retinal dystr...