Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia
作者： S. D. Spacey , P. J. Adams , P.C.P. Lam , L. A. Materek , A. J. Stoessl
DOI: 10.1212/01.WNL.0000217332.51740.7C
关键词:
摘要: Paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by attacks of dystonia or chorea lasting minutes to hours. Recently, mutations in the myofibrillogenesis regulator 1 gene (MR-1) have been identified 10 unrelated PNKD kindreds. The authors describe a Canadian family who does not MR-1 and links separate locus at 2q31. This indicates that there are least two different genes responsible for PNKD.
sci-hub.se 参考文章(11)
Gameil T Fouad, Serenella Servidei, Simon Durcan, E. Bertini, Louis J Ptácek, A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. American Journal of Human Genetics. ,vol. 59, pp. 135- 139 ,(1996)
L. Girbach, P. Hedera, J. Mathay, S. Rainier, J. Wilkowski, R. Albin, J. K. Fink, S. M. Jones, A. Kume, B. Otterud, T. Varvil, M. Leppert, Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q American Journal of Human Genetics. ,vol. 59, pp. 140- 145 ,(1996)
I. Gourfinkel-An, K. Parain, A. Hartmann, L. Mangiarini, A. Brice, G. Bates, E. C. Hirsch, Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice. Journal of Neurochemistry. ,vol. 86, pp. 1369- 1378 ,(2003) , 10.1046/J.1471-4159.2003.01916.X
Meltem Demirkiran, Joseph Jankovic, Paroxysmal dyskinesias: Clinical features and classification Annals of Neurology. ,vol. 38, pp. 571- 579 ,(1995) , 10.1002/ANA.410380405
Susanne Edelhoff, Catherine E. Grubin, Allan E. Karlsen, David A. Adler, Don Foster, Christine M. Disteche, Åke Lernmark, Mapping of Glutamic Acid Decarboxylase (GAD) Genes Genomics. ,vol. 17, pp. 93- 97 ,(1993) , 10.1006/GENO.1993.1288
Kresimir Letinic, Roberto Zoncu, Pasko Rakic, Origin of GABAergic neurons in the human neocortex Nature. ,vol. 417, pp. 645- 649 ,(2002) , 10.1038/NATURE00779
S Altschula, Warren Gisha, Webb Millerb, E Meyersc, D Lipmana, None, Basic Local Alignment Search Tool Journal of Molecular Biology. ,vol. 215, pp. 403- 410 ,(1990) , 10.1016/S0022-2836(05)80360-2
K. Kastury, T. Druck, K. Huebner, A. Simeone, D. Acampora, M. Pannese, M. D'Esposito, A. Stornaiuolo, M. Gulisano, A. Mallamaci, Cloning and characterization of two members of the vertebrate Dlx gene family. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 91, pp. 2250- 2254 ,(1994) , 10.1073/PNAS.91.6.2250
Shirley Rainier, Donald Thomas, Debra Tokarz, Lei Ming, Melanie Bui, Erin Plein, Xinping Zhao, Rosemary Lemons, Roger Albin, Colin Delaney, David Alvarado, John K Fink, Myofibrillogenesis Regulator 1 Gene Mutations Cause Paroxysmal Dystonic Choreoathetosis Archives of Neurology. ,vol. 61, pp. 1025- 1029 ,(2004) , 10.1001/ARCHNEUR.61.7.1025
Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H. Ahn, Georg W.J. Auburger, Massimo Pandolfo, Hubert Kwieciński, David A. Grimes, Anthony E. Lang, Jorgen E. Nielsen, Yuri Averyanov, Serenella Servidei, Andrzej Friedman, Patrick Van Bogaert, Marc J. Abramowicz, Michiko K. Bruno, Beatrice F. Sorensen, Ling Tang, Ying-Hui Fu, Louis J. Ptáček, The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway Human Molecular Genetics. ,vol. 13, pp. 3161- 3170 ,(2004) , 10.1093/HMG/DDH330