Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia

Neuroscience Letters

Volumn 402, Issue 1-2, 2006, Pages 118-120

  Hempelmann, Anne ^a   Kumar, Santosh ^c   Muralitharan, Shanmugakonar ^d   Sander, Thomas ^a,b  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c ROYAL HOSPITAL   (Oman)

^d SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

Author keywords

Genetics; Mutation; Myofibrillogenesis regulator 1; Paroxysmal nonkinesigenic dyskinesia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSKINESIA; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MISSENSE MUTATION; MYOFIBRILLOGENESIS REGULATOR 1 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REGULATOR GENE; SEQUENCE ANALYSIS;

CHOREA; CHOREATIC DISORDERS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUSCLE PROTEINS; MUTATION, MISSENSE; OMAN;

EID: 33646792971     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2006.03.048     Document Type: Article

References (14)

1. Bhatia K.P. Familial (idiopathic) paroxysmal dyskinesias: an update. Semin. Neurol. 21 (2001) 69-74
2. Broman K.W., Murray J.C., Sheffield V.C., White R.L., and Weber J.L. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63 (1998) 861-869
3. Chen D.H., Matsushita M., Rainier S., Meaney B., Tisch L., Feleke A., Wolff J., Lipe H., Fink J., Bird T.D., and Raskind W.H. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch. Neurol. 62 (2005) 597-600
4. Djarmati A., Svetel M., Momcilovic D., Kostic V., and Klein C. Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. Arch. Neurol. 62 (2005) 1641
5. Fink J.K., Rainer S., Wilkowski J., Jones S.M., Kume A., Hedera P., Albin R., Mathay J., Girbach L., Varvil T., Otterud B., and Leppert M. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am. J. Hum. Genet. 59 (1996) 140-145
6. Fouad G.T., Servidei S., Durcan S., Bertini E., and Ptacek L.J. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am. J. Hum. Genet. 59 (1996) 135-139
7. Gudbjartsson D.F., Jonasson K., Frigge M.L., and Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25 (2000) 12-13
8. Lathrop G.M., and Lalouel J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36 (1984) 460-465
9. Lee H.Y., Xu Y., Huang Y., Ahn A.H., Auburger G.W., Pandolfo M., Kwiecinski H., Grimes D.A., Lang A.E., Nielsen J.E., Averyanov Y., Servidei S., Friedman A., Van Bogaert P., Abramowicz M.J., Bruno M.K., Sorensen B.F., Tang L., Fu Y.H., and Ptacek L.J. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum. Mol. Genet. 13 (2004) 3161-3170
10. Lorenz S., Heils A., Taylor K.P., Gehrmann A., Muhle H., Gresch M., Becker T., Tauer U., Stephani U., and Sander T. Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. Neurosci. Lett. 397 (2006) 234-239
11. Matsuo H., Kamakura K., Saito M., Okano M., Nagase T., Tadano Y., Kaida K., Hirata A., Miyamoto N., Masaki T., Nakamura R., Motoyoshi K., Tanaka H., and Tsuji S. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. Arch. Neurol. 56 (1999) 721-726
12. Rainier S., Thomas D., Tokarz D., Ming L., Bui M., Plein E., Zhao X., Lemons R., Albin R., Delaney C., Alvarado D., and Fink J.K. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch. Neurol. 61 (2004) 1025-1029
13. Raskind W.H., Bolin T., Wolff J., Fink J., Matsushita M., Litt M., Lipe H., and Bird T.D. Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. Hum. Genet. 102 (1998) 93-97
14. Tauer U., Lorenz S., Lenzen K.P., Heils A., Muhle H., Gresch M., Neubauer B.A., Waltz S., Rudolf G., Mattheisen M., Strauch K., Nurnberg P., Schmitz B., Stephani U., and Sander T. Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann. Neurol. 57 (2005) 866-873