Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
نویسندگان
چکیده
We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa-responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early-onset Parkinson's disease with resulting difficulties concerning treatment and prognosis.
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 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
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 Disea...
متن کاملAtypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
Dopa-responsive dystonia (DRD) is an autosomal dominant disorder typically presenting as dystonia with diurnal variability. Described is an 8-year-old boy who had had waddling gait, generalized hypotonia, and proximal weakness since early childhood. He responded well to low-dose L-dopa. He had a point mutation of the GTP cyclohydrolase I gene. The patient's father and sister had the same mutati...
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 کاملParkinson’s disease in GTP cyclohydrolase 1 mutation carriers
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common cause of DOPA-responsive dystonia, a rare disease that classically presents in childhood with generalized dystonia and a dramatic long-lasting resp...
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ورودعنوان ژورنال:
- Movement disorders : official journal of the Movement Disorder Society
دوره 21 5 شماره
صفحات -
تاریخ انتشار 2006