JOURNAL ARTICLE

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

L J Ozelius, J W Hewett, C E Page, S B Bressman, P L Kramer, C Shalish, D de Leon, M F Brin, D Raymond, D P Corey, S Fahn, N J Risch, A J Buckler, J F Gusella, X O Breakefield
Nature Genetics 1997, 17 (1): 40-8
9288096
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

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