Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 74, Issue 5, 1997, Pages 529-532

  Leube, B ^a   Hendgen, T ^a   Kessler, K R ^a   Knapp, M ^b   Benecke, R ^c   Auburger, G ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c ROSTOCK UNIVERSITY MEDICAL CENTER   (Germany)

Author keywords

Adult onset idiopathic torsion dystonia; DYT7; Focal idiopathic torsion dystonia; Idiopathic torsion dystonia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 18P; DNA DETERMINATION; GENE MAPPING; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; PREVALENCE; PRIORITY JOURNAL; TORTICOLLIS;

ADOLESCENT; ADULT; AGED; ALLELES; CHILD; CHROMOSOMES, HUMAN, PAIR 18; EUROPE; FEMALE; GENES; GENETIC MARKERS; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; TORTICOLLIS;

EID: 0030770713     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970919)74:5<529::AID-AJMG15>3.0.CO;2-E     Document Type: Article

References (10)

1. Benecke R, Strümper P, Weiss H (1992): Electron transfer complex I defect in idiopathic dystonia. Ann Neurol 32:683-686.
2. de Coo R, Buddiger P, Smeets H, van Kessel AG, Morgan-Hughes J, Weghuis DO, Overhauser J, van Oost B (1995): Molecular cloning and characterization of the active human mitochondrial NADH:ubichinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene. Genomics 26:461-466.
3. Elston RC (1997): 1996 William Allan Award Address. Algorithms and interferences: The challenge of multifactorial diseases. Am J Hum Genet 60:255-262.
4. Fahn S (1988): Concept and classification of dystonia. Adv Neurol 50:1-8.
5. Fahn S (1994): Dystonias. In Jankovic J, Hallet M (eds): "Therapy With Botulinum Toxin." New York: Marcel Dekker, pp 173-189.
6. Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G (1996): Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5:1673-1677.
7. Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G (1997a): Sporadic focal dystonia in Northwest Germany: Molecular basis on chromosome 18p. Ann Neurol (in press).
8. Leube B, Kessler KR, Goecke T, Auburger G, Benecke R (1997b): Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord (in press).
9. Nutt JG, Muenter MD, Melton LJ, et al. (1988): Epidemiology of dystonia in Rochester, Minnesota. Adv Neurol 50:361-365.
10. Uitti RJ, Maraganore DM (1993): Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 8:489-494.