Copper genes are not implicated in the pathogenesis of focal dystonia

Neurology

Volumn 59, Issue 5, 2002, Pages 782-783

  Bandmann, O ^a,e   Asmus, F ^b   Sibbing, D ^a   Grundmann, M ^a   Schwab, S G ^c   Muller J ^d   Wildenauer, D B ^c   Poewe, W ^d   Gasser, T ^b   Oertel, W H ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

^e UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER;

ARTICLE; BLEPHAROSPASM; COPPER METABOLISM; DYSTONIA; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEIGE DISEASE; MUSCLE CRAMP; PRIORITY JOURNAL; TORTICOLLIS; WILSON DISEASE;

EID: 0037056306     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.5.782     Document Type: Article

References (7)

1. Becker G, Berg D, Rausch W-D, Lange HKW, Riederer P, Reiners K. Increased tissue copper and manganese content in primary adult-onset dystonia. Ann Neurol 1999;46:260-263.
2. Berg D, Weishaupt A, Francis MJ, et al. Changes of copper-transporting proteins and ceruloplasmin in the lentiform nuclei in primary adultonset dystonia. Ann Neurol 2000;47:827-830.
3. Kruse N, Berg D, Francis MJ, et al. Reduction of Menkes mRNA and copper in leukocytes of patients with primary adult-onset dystonia. Ann Neurol 2001;49:405-408.
4. Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 1985;48:218-224.
5. Tümer Z, Lund C, Tolshave J, Vural B, Tonnesen T, Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 1997;60:63-71.
6. Petrushkin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994;3:1647-1656.
7. Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet 1994;55:883-889.