Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report

Neurologia i Neurochirurgia Polska

Volumn 41, Issue 6, 2007, Pages 487-494

  Gajos, Agata ^a   Piaskowski, Sylwester ^a   Sławek, Jarosław ^b   Ochudło, Stanisław ^c   Opala, Grzegorz ^a   Łobińska, Alicja ^a   Honczarenko, Krystyna ^d   Budrewicz, Sławomir ^e   Koszewicz, Magdalena ^e   Pełszyńska, Barbara ^a   Liberski, Paweł P ^a   Bogucki, Andrzej ^a  

^a Uniwersytetu Medycznego ^*  (Poland)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

^c Katedra i Klinika Neurologii Wieku Podesz ego laskiej   (Poland)

^d POMERANIAN MEDICAL UNIVERSITY   (Poland)

^e WROCLAW MEDICAL UNIVERSITY   (Poland)

Author keywords

DYT1 mutation; Genetic studies; Phenotype; Primary dystonia

Indexed keywords

BINDING PROTEIN; PROTEIN DYT1; TORSIN1A PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; DYSTONIA; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; POLAND; POPULATION RESEARCH; PREVALENCE; RELATIVE; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; DYSTONIA; DYSTONIC DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUTATION; PHENOTYPE; POLAND; PREVALENCE; VARIATION (GENETICS);

EID: 38949085493     PISSN: 00283843     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Jankovic J., Fahn S. Dystonic disorders. In: Jankovic J., Tolosa E. [eds]. Parkinson's Disease and Movement Disorders. 4th ed. Lippincott Williams & Wilkins, Philadelphia 2002, pp. 331-357.
2. Albanese A. The clinical expression of primary dystonia. J Neurol 2003; 250: 1145-1151.
3. Brin M.F., Comella C.L. Pathopysiology of Dystonia. In: Brin M.F., Comella C.L., Jankovic J. [eds]. Dystonia: Etiology, Clinical Features, and Treatment. 1st ed. Lippincott Williams & Wilkins, Philadelphia 2004, pp. 5-10.
4. Bressman S.B., Tagliati M., Klein C. Genetics of dystonia. In: Brin M.F., Comella C.L., Jankovic J. [eds]. Dystonia: Etiology; Clinical Features, and Treatment. 1st ed. Lippincott Williams & Wilkins, Philadelphia 2004, pp. 11-21.
5. Risch N., Bressman S.B., de Leon D., et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995; 9: 152-159.
6. Zilber N., Korczyn A.D., Kahana E., et al. Inheritance of idiopathic torsion dystonia among Jews. J Med Genet 1984; 21: 13-20.
7. Frederic M., Lucarz F., Monino C., et al. First determination of the incidence of the unique TORIA gene mutation, c.907delGAG, in a Mediterranean population. Mov Disord 2007; 22: 884-888.
8. Bressman S.B, de Leon D., Brin M.F., et al. Idiopathic torsion dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989; 26: 612-620.
9. Risch N., Bressman SB., de Leon D., et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet 1990; 46: 533-538.
10. Pauls D.L., Korczyn A.D. Complex segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Neurology 1990; 40: 1107-1110.
11. Kramer P.L, de Leon D., Ozelius L., et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 1990; 27: 114-120.
12. Kostic V.S., Svetel M., Kabakci K., et al. Intrafamilial phenotypic and genetic heterogeneity of dystonia. J Neurol Sci 2006; 250: 92-96.
13. Lehre A.S., Durr A., Jedynak P., et al. DYT1 mutation in French families with idiopathic torsion dystonia. Brain 1999; 122: 41-45.
14. Ozelius L.J., Kramer P., Moskowitz C.B., et al. Human gene for torsion dystonia located on chromosome 9q32-34. Neuron 1989; 2: 1427-1434.
15. Ozelius L.J., Hewett J.W., Page C.F., et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet 1997; 17: 40-48.
16. Liu Z., Zolkiewska A., Zolkiewski M. Characterization of human torsinA and its dystonia-associated mutant form. Biochem J 2003; 374: 117-122.
17. Ozelius L.J., Hewett J.W., Page C.F., et al. The gene (DYT1) for early-onset encodes an novel protein related to Clp protease/heat shock family. Adv Neurol 1998; 78: 93-105.
18. Bressman S.B., Sabatti C., Raymond D., et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000; 54: 1746-1753.
19. Bressman S.B., Raymond D., Wendt K., et al. Diagnostic criteria for dystonia in DYT1 families. Neurology 2002; 59: 1780-1782.
20. Gasser T., Windgassen K., Bereznai B., et al. Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann Neurol 1998; 44: 126-128.
21. Burke R.E., Fahn S., Marsden C.D., et al. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985; 35: 73-77.
22. Valente E.M., Warner P.R., Jarman P.R., et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998; 121: 2335-2339.
23. Hjermind L.E., Werdelin L.M., Sorensen S.A. Inherited and de novo mutations in sporadic cases of DYT1-dystonia. Eur J Hum Genet 2002; 10: 213-216.
24. Kamm C., Castelon-Konkiewitz E., Naumann M., et al. GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov Disord 1999; 14: 681-683.
25. Zorzi G., Garavaglia B., Invernizzi F., et al. Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov Disord 2002; 17: 407-408.
26. Gambarin M., Valente E.M., Liberini P., et al. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. Mov Disord 2006; 21: 1782-1784.
27. Slominsky P.A., Markova E.D., Shadrina M.I., et al. A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia. Hum Mutat 1999; 14: 269.
28. Bressman S.B, de Leon D., Kramer P.L., et al. Dystonia in Ashkenazi Jews: clinical characterization of founder notation. Ann Neurol 1994; 36: 771-777.