GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany

Movement Disorders

Volumn 14, Issue 4, 1999, Pages 681-683

  Kamm, Christoph ^a   Castelon Konkiewitz, Elisabete ^b   Naumann, Markus ^c   Heinen, Florian ^d   Brack, Martina ^e   Nebe, Angela ^f   Ceballos Baumann, Andres ^b   Gasser, Thomas ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e HANNOVER MEDICAL SCHOOL   (Germany)

^f HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Dystonia; DYT1; Early limb onset dystonia; Genetics

Indexed keywords

BOTULINUM TOXIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 9Q; CLINICAL ARTICLE; FAMILY HISTORY; FEMALE; GENE DELETION; GERMANY; HUMAN; MALE; NECK MUSCLE; PRIORITY JOURNAL; SIDE EFFECT; TORSION DYSTONIA;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CARRIER PROTEINS; CHILD; CHROMOSOMES, HUMAN, PAIR 9; DISEASE PROGRESSION; DYSTONIA; EXTREMITIES; FAMILY HEALTH; FEMALE; GENE DELETION; GENETIC MARKERS; GERMANY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0033435220     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(199907)14:4<681::AID-MDS1020>3.0.CO;2-M     Document Type: Article

References (9)

1. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In: Marsden CD, Fahn S, eds. Movement Disorders, vol 2. London: Butterworths, 1987:332-358.
2. Fahn S. Concept and classification of dystonia. Adv Neurol 1988; 50:1-8.
3. Zilber N, Korczyn AD, Kahana E, Fried K, Alter M. Inheritance of idiopathic torsion dystonia among Jews. J Med Genet 1984;21:13-20.
4. Risch N, de Leon D, Ozelius L, 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.
5. Ozelius L, Kramer PL, de Leon D, et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992;50:619-628.
6. Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-777.
7. Greene P, Kang UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov Disord 1995;10:143-152.
8. Ozelius J, Hewett JW, Page CE, et al. The early-onset dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997; 17:40-48.
9. Dauer WT, Burke RE, Greene P, Fahn S. Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia. Brain 1998;121:547-560.