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

ABSTRACT:

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 deficiency was documented by biochemical analyses, enzymatic measurements in fibroblasts, and molecular investigations. All affected individuals were examined neurologically, and psychiatric data were systematically reviewed.

Results

Eighteen affected patients from three families with proven GTP cyclohydrolase deficiency were identified. Eight patients presenting at less than 20 yea

SUBMITTER: Van Hove JL 

PROVIDER: S-EPMC2117403 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature