Phenotypic variability of the DYT1 mutation in German dystonia patients

Acta Neurologica Scandinavica

Volumn 99, Issue 4, 1999, Pages 248-251

  Leube, B ^a   Kessler, K R ^a   Ferbert, A ^b   Ebke, M ^c   Schwendemann, G ^c   Erbguth, F ^d   Benecke, R ^e   Auburger, G ^a,f  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b KLINIKUM KASSEL   (Germany)

^c Zentralkrankenhaus Bremen Ost ^*  (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e UNIVERSITY OF ROSTOCK   (Germany)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Dystonia; DYT1; Phenotype

Indexed keywords

ADULT; ARTICLE; BODY POSTURE; CLINICAL ARTICLE; DYSTONIA; FAMILY HISTORY; FEMALE; GENE DELETION; GENE LOCUS; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; INVOLUNTARY MOVEMENT; MALE; MUSCLE CONTRACTION; PENETRANCE; PHENOTYPE; TRINUCLEOTIDE REPEAT;

EID: 0032895322     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1999.tb07356.x     Document Type: Article

References (14)

1. 1. Marsden CD, Obeso JA, Zarranz JJ et al. The anatomical basis of symptomatic hemidystonia. Brain 1985;108:463-83.
2. 2. Augood SJ, Penney JB, Friberg IK et al. Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann Neurol 1998;43:669-73.
3. 3. Fahn S. Concept and classification of dystonia, Adv Neurol 1988;50:1-8.
4. 4. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia, In: Marsden CD, Fahn S, eds. Movement Disorders 2. London: Butterworths, 1987:332-58.
5. 5. Bressman SB, De Leon D, Kramer PL et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-7.
6. 6. Greene P, Kang, UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov Disord 1995;10:143-52.
7. 7. Jarman PR, Warner TT. The dystonias. J Med Genet 1998;35:314-18.
8. 8. Ichinose H, Ohye T, Takahashi F. et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet 1994;8:236-42.
9. 9. Knappskog PM, Flatmark T, Mallet J et al. Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995:4:1209-12.
10. 10. Ozelius LJ, Hewett JW, Page CE et al. The early-onset dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-8.
11. 11. Kramer PL, Heiman GA, Gasser T et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994;55:468-75.
12. 12. 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;44:126-8.
13. 13. Bressman SB, De Leon D, Brin MF et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989;26:612-20.
14. 14. Klein C, Brin MF, De Leon D et al. De novo mutation (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998;7:1133-6.