Autosomal Dominant Gtp Cyclohydrolase I (ad Gch 1) Deficiency (segawa Disease, Dystonia 5; Dyt 5) Childhood Onset Cases Start with Postural Dystonia of a Lower Extremity, Mostly with Talipes Equinovarus
نویسنده
چکیده
From the Segawa Neurological Clinic for Children, Tokyo, Japan. Received: Sep. 28, 2007; Accepted: Apr. 29, 2008 Correspondence to: Dr. Masaya Segawa, Segawa Neurological Clinic for Children. 2-8 Surugadai Kanda, Chiyoda-ku, Tokyo 1010062, Japan. Tel.: 81-3-3294-0371; Fax: 81-3-3294-0290; E-mail: [email protected] Autosomal Dominant GTP Cyclohydrolase I (AD GCH 1) Deficiency (Segawa Disease, Dystonia 5; DYT 5)
منابع مشابه
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...
متن کاملAutosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
Autosomal dominant guanosine triphosphate cyclohydrolase I (GCH-I) deficiency (Segawa disease) is a dopa-responsive dystonia caused by mutation of the GCH-I gene located on 14q22.1-q22.2. Neurohistochemical examination revealed a decrease of the tyrosine hydroxylase protein as well as its activity in the striatum and decrease of dopamine content, particularly in its ventral portion rich in D1 r...
متن کاملMutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Tetrahydrobiopterin (BH(4)) deficiencies are a highly heterogeneous group of disorders with several hundred patients, and so far a total of 193 different mutant alleles or molecular lesions identified in the GTP cyclohydrolase I (GTPCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), or dihydropteridine reductase (DHPR) genes. The sp...
متن کاملWide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
We describe the clinical and molecular correlates in two Italian families with dopa-responsive dystonia (DRD) and the same novel mutation of GTP-cyclohydrolase I (GCH-I) gene. Thirty-five subjects were examined and the genotype correlated to phenotype. Childhood onset foot dystonia is present in 7 subjects currently under the age of 40. In 1 patient bilateral foot dystonia was evident at birth ...
متن کاملArg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5'-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.
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تاریخ انتشار 2009