Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

Acta Neurologica Scandinavica

Volumn 114, Issue 3, 2006, Pages 210-215

  Naiya, T ^a   Biswas, A ^a   Neogi, R ^b   Datta, S ^b   Misra, A K ^c   Das, S K ^c   Ray, K ^b   Ray, J ^a  

^a UNIVERSITY OF CALCUTTA   (India)

^b INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^c INSTITUTE OF POST GRADUATE MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

DYT1; Focal dystonia; Primary dystonia; Writer's cramp

Indexed keywords

ASPARTIC ACID; GENE PRODUCT; NUCLEOTIDE; PROTEIN DYT1; SINGLE STRANDED DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ASSESSMENT; COMORBIDITY; COMPARATIVE STUDY; CONFORMATION; CONTROL GROUP; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA SEQUENCE; DYSTONIA; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; MISSENSE MUTATION; PAIN; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM; TREMOR;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FEMALE; HUMANS; INDIA; INFANT; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; SEQUENCE DELETION;

EID: 33746922348     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2006.00663.x     Document Type: Article

References (40)

1. FAHN S, MARSDEN CD, CALNE DB. Classification and investigation of dystonia. In: Marsden CD, Fahn S, eds. Movement disorder. London: Butterworths, 1987;332-58.
2. ZEMAN W, KAELBLING R, PASAMANICK B, JENKINS JT. Idiopathic dystonia musculorum deformans. I. The hereditary pattern. Am J Hum Genet 1959;11:188-202.
3. ZEMAN W, KAELBLING R, PASAMANICK B. Idiopathic dystonia musculorum deformans. II. The formes frustes. Neurology 1960;10:1068-75.
4. CHAN J, BRIN MF, FAHN S. Idiopathic cervical dystonia: clinical characteristics. Mov Disord 1991;6:119-26.
5. JANKOVIC J, LEDER S, WARNER D, SCHWARTZ K. Cervical dystonia: clinical findings and associated movement disorders. Neurology 1991;41:1088-91.
6. CHENG JT, LIU A, WASMUTH J, LIU BP, TRUONG D. Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia. Neurology 1996;47:215-9.
7. DEUSCHL G, HEINEN F, GUSCHLBAUER B, SCHNEIDER S, GLOCKER FX, LUCKING CH. Hand tremor in patients with spasmodic torticollis. Mov Disord 1997;12:547-52.
8. TARSY D, FIRST ER. Painful cervical dystonia: clinical features and response to treatment with botulinum toxin. Mov Disord 1999;14:1043-5.
9. SHANG H, CLERC N, LANG D, KAELIN-LANG A, BURGUNDER JM. Clinical and molecular genetic evaluation of patients with primary dystonia. Eur J Neurol 2005;12:131-8.
10. DEFAZIO G, ABBRUZZESE G, LIVREA P, BERARDELLI A. Epidemiology of primary dystonia. Lancet Neurol 2004;3:673-8.
11. KLEIN C, OZELIUS LJ. Dystonia: clinical features, genetics and treatment. Curr Opin Neurol 2002;15:491-7.
12. NEMETH AH. The genetics of primary dystonias and related disorders. Brain 2002;125:695-721.
13. 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;8:236-42.
14. LUDECKE B, DWORNICZAK B, BARTHOLOME K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995;95:123-5.
15. ZIMPRICH A, GRABOWSKI M, ASMUS F et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-69.
16. KLEIN C, BRIN MF, KRAMER P et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci U S A 1999;96:5173-6.
17. LIN YW, CHANG HC, CHOU YH et al. DYT1 mutation in a cohort of Taiwanese primary dystonias. Parkinsonism Relat Disord 2006;12:15-19.
18. VALENTE EM, WARNER TT, JARMAN PR et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998;121:2335-9.
19. LEBRE AS, DURR A, JEDYNAK P et al. DYT1 mutation in French families with idiopathic torsion dystonia. Brain 1999;122:41-45.
20. BRASSAT D, CAMUZAT A, VIDAILHET M et al. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch Neurol 2000;57:333-5.
21. LEUNG JC, KLEIN C, FRIEDMAN J et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-43.
22. MAJOR T, SVETEL M, ROMAC S, KOSTIC VS. DYT1 mutation in primary torsion dystonia in a Serbian population. J Neurol 2001;248:940-3.
23. MATSUMOTO S, NISHIMURA M, KAJI R et al. DYT1 mutation in Japanese patients with primary torsion dystonia. Neuroreport 2001;12:793-5.
24. GRUNDMANN K, LAUBIS-HERRMANN U, BAUER I et al. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 2003;60:1266-70.
25. KABAKCI K, HEDRICH K, LEUNG JC et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004;62:395-400.
26. ASMUS F, ZIMPRICH A, TEZENAS DU et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 2002;52:489-92.
27. OZELIUS LJ, HEWETT JW, PAGE CE et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
28. NEUWALD AF, ARAVIND L, SPOUGE JL, KOONIN EV. AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res 1999;9:27-43.
29. OZELIUS LJ, PAGE CE, KLEIN C et al. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 1999;62:377-84.
30. YEUNG WL, LAM CW, CHENG WT et al. Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene. Chin Med J (Engl) 2005;118:873-6.
31. BRESSMAN SB, SABATTI C, RAYMOND D et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-52.
32. JOHNS MB JR, PAULUS-THOMAS JE. Purification of human genomic DNA from whole blood using sodium perchlorate in place of phenol. Anal Biochem 1989;180:276-8.
33. BASSAM B, CAETANO-ANOLLES G, GRESSHOFF P. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991;196:80-83.
34. TATUSOVA T, MADDEN T. Blast 2 sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 1999;174:247-50.
35. STACY M. Idiopathic cervical dystonia: an overview. Neurology 2000;55(Suppl.):S2-8.
36. O'RIORDAN S, RAYMOND D, LYNCH T et al. Age at onset as a factor in determining the phenotype of primary torsion dystonia. Neurology 2004;63:1423-6.
37. GASSER T, WINDGASSEN K, BEREZNAI B, KABUS C, LUDOLPH AC. Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann Neurol 1998;44:126-8.
38. VAN DEN BOS M, MAROTTA R, GOLDUP S, CHATAWAY T, FIRGAIRA F, THYAGARAJAN D, Writer's cramp in an Australian pedigree with DYT1 dystonia. J Clin Neurosci 2004;11:537-9.
39. CAO S, GELWIX CC, CALDWELL KA, CALDWELL GA. Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans. J Neurosci 2005;25:3801-12.
40. KLEIN C, BRIN MF, DE LEON D et al. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998;7:1133-6.