A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa Disease) [8]

Movement Disorders

Volumn 20, Issue 8, 2005, Pages 1083-1084

  Ohta, Etsuro ^a   Toyoshima, Itaru ^b   Funayama, Manabu ^a,d   Ichinose, Hiroshi ^c   Hasegawa, Kazuko ^d   Obata, Fumiya ^a  

^a KITASATO UNIVERSITY   (Japan)

^b AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

^d SAGAMIHARA NATIONAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; ISOLEUCINE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; DYSTONIA; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; JAPAN; LETTER; PATHOGENESIS; PRIORITY JOURNAL; SCHOOL CHILD; SEGAWA DISEASE;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; EXONS; FEMALE; GTP CYCLOHYDROLASE; HUMANS; ISOLEUCINE; MUTATION; THREONINE;

EID: 26444447104     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20490     Document Type: Letter

References (7)

1. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-233.
2. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-242.
3. Blau N, Niederwieser A. GTP-cyclohydrolases: a review. J Clin Chem Clin Biochem 1985;23:169-176.
4. Hirano M, Yanagihara T, Ueno S. Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. Ann Neurol 1998;44:365-371.
5. Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 2004;94:127-138.
6. Segawa M, Nomura Y, Yukishita S, Nishiyama N, Yokochi M. Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene? Adv Neurol 2004;94:217-223.
7. Nar H, Huber R, Meining W, Schmid C, Weinkauf S, Bacher A. Atomic structure of GTP cyclohydrolase I. Structure 1995;3:459-466.