A new mutation in the GCH1 gene presents as early-onset Parkinsonism

Parkinsonism and Related Disorders

Volumn 15, Issue 2, 2009, Pages 160-161

  Momma, Kazunari ^a   Funayama, Manabu ^b   Li, Yuanzhe ^b   Ichinose, Hiroshi ^c   Motoyoshi, Kazuo ^a   Hattori, Nobutaka ^b   Mizuno, Yoshikuni ^b   Kamakura, Keiko ^a  

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CABERGOLINE; CARBIDOPA PLUS LEVODOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; SELEGILINE;

ADULT; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; MALE; PARKINSONISM; PRIORITY JOURNAL; TREATMENT OUTCOME;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; GTP CYCLOHYDROLASE; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS;

EID: 58349098980     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2007.12.010     Document Type: Letter

References (4)

1. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8 (1994) 236-242
2. Segawa M., Nomura Y., and Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa Disease). Ann Neurol 54 (2003) S32-S45
3. Ichinose H., Ohye T., Yokochi M., Fujita K., and Nagatsu T. GTP cyclohydrolase 1 activity in mononuclear blood cells in juvenile Parkinsonism. Neurosci Lett 190 (1995) 140-142
4. Fujishiro K., Hagihara M., Takahashi A., and Nagatsu T. Concentrations of neopterin and biopterin in the cerebrospinal fluid of patients with Parkinson's disease. Biochem Med Metab Biol 44 (1990) 97-100