Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation

Movement Disorders

Volumn 19, Issue 10, 2004, Pages 1139-1145

  Uncini, Antonino ^a,e   De Angelis, Maria Vittoria ^a   Di Fulvio, Patrizia ^a   Ragno, Michele ^b   Annesi, Grazia ^c   Filla, Alessandro ^d   Stuppia, Liborio ^a   Gambi, Domenico ^a  

^a UNIVERSITY OF CHIETI   (Italy)

^b C and G Mazzoni Hospital   (Italy)

^c INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e Ospedale SS Annunziata   (Italy)

Author keywords

Dopa responsive dystonia; Expressivity; Founder effect; Gender related penetrance; Parkinsonism

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; POLYPEPTIDE;

ADULT; AGED; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DRUG RESPONSE; DYSTONIA; EXON; FAMILY; FEMALE; FOOT DISEASE; FOUNDER EFFECT; GENDER; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENEALOGY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; ITALY; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSONISM; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELAPSE; REMISSION;

ADULT; DNA MUTATIONAL ANALYSIS; DNA, SINGLE-STRANDED; DOPAMINE AGONISTS; DYSTONIA; FEMALE; GENE EXPRESSION; GTP CYCLOHYDROLASE; HAPLOTYPES; HUMANS; LEVODOPA; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 7244239291     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20048     Document Type: Article

References (21)

1. Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. In: Segawa M, editor. Hereditary progressive dystonia with marked diurnal fluctuation. Lancs, UK: Parthenon Publishing; 1993. p 3-19.
2. Nygaard TG, Snow BJ, Fahn S, Calne DB. Dopa-responsive dystonia: clinical characteristics and definition. In: Segawa M, editor. Hereditary progressive dystonia with marked diurnal fluctuation. Larics, UK: Parthenon Publishing; 1993. p 21-35.
3. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutation in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-242.
4. Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the parkin gene in affected individuals. Ann Neurol 1998;44:935-941.
5. Steinberg D, Korithenberg R, Topka H, et al. Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of the therapeutic doses of L-dopa. Neurology 2000;55:1735-1737.
6. Furukawa Y, Nygaard TG, Gutlich M, et al. Striatal biopterine and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 1999;53:1032-1041.
7. Nygaard TG, Trugman JM, de Yebenes JC, Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990;40:66-69.
8. Nomura Y, Segawa M. Intrafamilial and interfamilial variations of symptoms of Japanese hereditary progressive dystonia with marked diurnal fluctuation. In: Segawa M, editor. Hereditary progressive dystonia with marked diurnal fluctuation. Lancs, UK: Parthenon Publishing; 1993. p 73-96.
9. Steinberg D, Weber Y, Korithenberg R, et al. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann Neurol 1998;43:634-639.
10. Furukawa Y, Lang AE, Trugman JM, et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology 1998;50:1015-1020.
11. Fahn S. Concept and classification of dystonia. Adv Neurol 1988; 50:1-8.
12. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutation in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-242.
13. Nygaard TG, Marsden CD, Fahn S. Dopa-responsive dystonia: long term response and prognosis. Neurology 1991;41:174-181.
14. Kong C-K, Ko C-H, Tong SF, Lam C-W. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology 2001;57:1121-1124.
15. Di Capua M, Bertini E. Remission in dihydroxyphenylalanine-responsive distonia. Mov Disord 1995;10:223.
16. Iwami O, Kawamura J, Hashimoto S, Suenaga T, Nakamura M. Hereditary progressive dystonia with marked diurnal fluctuation-a report of two siblings one of them showing age-dependent changes of symptoms. Clin Neurol 1990;30:961-965.
17. Bandmann O, Valente EM, Holmans P, et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol 1998;44:649-656.
18. Grimes DA, Barclay CL, Duff J, Furukawa Y, Lang AE. Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry 2002;72:801-804.
19. Tassin J, Durr A, Bonnet AM, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000;123: 1112-1121.
20. Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T. Molecular genetics of dopa-responsive dystonia. Biol Chem 1999;380:1355-1364.
21. Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996;5:403-406.