Author(s): Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, et al.
Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations, none of which occurred in EOP patients. Two infrequent intronic single base pair (bp) changes of unknown consequences were found in a dystonia patient and the mother of an EOP patient. An 18-bp deletion (Phe323_Tyr328del) in the TOR1A gene was found in a patient with early onset dystonia and myoclonic features. This deletion would remove 6 amino acids close to the carboxy terminus, including a putative phosphorylation site of torsinA. This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.
Referred From: https://www.ncbi.nlm.nih.gov/pubmed/11523564
Author(s): Nardocci N
Author(s): Hess CW, Raymond D, AguiarPde C, Frucht S, Shriberg J, et al.
Author(s): Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT
Author(s): Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, et al.
Author(s): Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, et al.
Author(s): Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, et al.
Author(s): Harris RA
Author(s): Hevers W, Lüddens H
Author(s): Jacob TC, Michels G, Silayeva L, Haydon J, Succol F, et al.
Author(s): Vlastelica M, Jelaska M
Author(s): Abdelsayed M, Sokolov S
Author(s): Bialer M
Author(s): Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, et al.
Author(s): Lee JH, Lyoo CH, Lee MS
Author(s): Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, et al.
Author(s): Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, et al.
Author(s): Rodriguez MC, Obeso JA, Olanow CW
Author(s): SzoÅ‚na A, Harat M, Gryz J
Author(s): Hirabayashi H, Hariz MI, Wårdell K, Blomstedt P
Author(s): McIntyre CC, Grill WM, Sherman DL, Thakor NV
Author(s): Kuncel AM, Turner DA, Ozelius LJ, Greene PE, Grill WM, et al.
Author(s): Beukers RJ, Contarino MF, Speelman JD, Schuurman PR, Booij J, et al.
Author(s): Rughani AI, Lozano AM
Author(s): Frucht SJ, Bordelon Y, Houghton WH, Reardan D