Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene

Archives of Neurology

Volumn 58, Issue 5, 2001, Pages 749-755

  Hahn, Heidi ^a   Trant, Melissa R ^b   Brownstein, Michael J ^d   Harper, R Andrew ^c   Milstien, Sheldon ^d   Butler, Ian J ^b,e  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^e Department of Neurology ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMITRIPTYLINE; CARBAMAZEPINE; CARBIDOPA PLUS LEVODOPA; CHLORDIAZEPOXIDE; FLUOXETINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; LEVOTHYROXINE;

ADOLESCENT; ADULT; AGED; ANXIETY; ARTICLE; BRAIN METABOLISM; CEREBRAL PALSY; CLINICAL FEATURE; DEPRESSION; DYSTONIA; FAMILIAL DISEASE; FATIGUE; FEMALE; GENE MUTATION; GENOTYPE; HEARING IMPAIRMENT; HEREDITY; HUMAN; MALE; MENTAL DISEASE; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; NEUROPSYCHIATRY; OBSESSION; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; TORTICOLLIS; TREMOR;

EID: 0035006445     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.5.749     Document Type: Article

References (40)

1. Hereditary progressive dystonia with marked diurnal fluctuation
2. Dopa-responsive dystonia: Some pieces of the puzzle are still missing
3. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
4. High penetrance and pronounced variation in expressivity of GCH 1 mutations in five families with dopa-responsive dystonia
5. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
6. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia
7. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
8. A diagnostic interview: The Schedule for Affective Disorders and Schizophrenia
9. The assessment of affective disorders in children and adolescents by semi-structured interview: Test-retest reliability of the schedule for affective disorders and schizophrenia for school-age children, present episode version
10. "Mini-Mental State": A practical method for grading the cognitive state of patients for the clinician
11. Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid
12. Tetrahydrobiopterin is required for cytokine-induced nitric oxide production in a murine macrophage cell line (RAW 264)
13. Characterization of mouse and human GTP cyclohydrolase I genes: Mutations in patients with GTP cyclohydrolase I deficiency
14. Remarkable response to benzhexol hydrochloride (Artane) in children with an unusual progressive striatal syndrome
15. 11C]-raclopride and positron-emission tomography
16. Biochemical hallmarks of tyrosine hydroxylase deficiency
17. The striatal foot
18. Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
19. Atypical presentations of dopa-responsive dystonia
20. Dopa-responsive dystonia
21. Dystonia with marked diurnal variation associated with biopterin deficiency
22. Tetrahydrobiopterin in dystonia: Identification of abnormal metabolism and therapeutic trials
23. Current and future therapeutic approaches to the treatment of depression
24. Fluctuating dystonia responsive to levodopa
25. Altered serotonin metabolism in depressed patients with Parkinson's disease
26. Anxiety and motor performance in Parkinson's disease
27. Reduction of cortical dopamine, noradrenaline, serotonin and their metabolites in Parkinson's disease
28. Parallel loss of presynaptic and postsynaptic dopamine markers in normal aging
29. X-linked dystonia-deafness syndrome
30. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
31. The increasingly complex genetics of Tourette's syndrome
32. Dopa-responsive dystonia: Long-term treatment response and prognosis
33. Long-term follow-up of levodopa responsiveness in generalized dystonia
34. Neurotrophic effects of L-dopa in postnatal midbrain dopamine neurons/cortical astrocyte cocultures
35. Chronic levodopa is not toxic for remaining dopamine neurons, but instead promotes their recovery, in rats with moderate nigrostriatal lesions
36. Welcome news about levodopa, but uncertainty remains
37. Saturation of blood brain barrier transport of amino acids in phenylketonuria
38. Effect of tetrahydrobiopterin and 5-hydroxytryptophan on hereditary progressive dystonia with marked diurnal fluctuation: A suggestion of the serotonergic system involvement
39. Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test