Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation

Movement Disorders

Volumn 21, Issue 11, 2006, Pages 2010-2015

  Stefano, Elka ^a   Djarmati, Ana ^b   Momčilović, Dragana ^c   Dragaševič, Nataša ^a   Svetel, Marina ^a   Klein, Christine ^b   Kostíc, Vladimir S ^a  

^a CLINICAL CENTER OF SERBIA   (Serbia)

^b UNIVERSITY OF LÜBECK   (Germany)

^c Institute of Neurology   (Serbia)

Author keywords

MR 1 mutation; Paroxysmal nonkinesigenic dyskinesia

Indexed keywords

ALANINE; CAFFEINE; MYOFIBRILLOGENESIS REGULATOR 1; REGULATOR PROTEIN; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DYSKINESIA; DYSTONIA; ENVIRONMENTAL TEMPERATURE; FAMILY HISTORY; FATIGUE; FEMALE; FEVER; FOOD INTAKE; FREQUENCY ANALYSIS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUNGER; MALE; ONSET AGE; PAROXYSMAL NONKINESIGENIC DYSKINESIA; PRIORITY JOURNAL; SLEEP; STRESS; YUGOSLAVIA;

EID: 33845193449     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21095     Document Type: Article

References (13)

1. Mount LA, Reback S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch Gen Psychiatry 1940;44:841-847.
2. Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977;2:285-293.
3. Fink JK, Hedera P, Albin RL, Mathay JG. Paroxysmal dystonia choreoathetosis: clinical and genetic analysis and proposed pathophysiology. Neurology 1997;49:177-183.
4. Jarman PR, Davis MB, Hodgson SV, Marsden CD, Wood NW. Paroxysmal dystonic choreoathetosis: genetic linkage studies in a British family. Brain 1997;120:2125-2130.
5. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-579.
6. Matsuo H, Kamakura K, Saito M, et al. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. Arch Neurol 1999;56:721-726.
7. Rainier S, Thomas D, Tokarz D, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 2004;61:1025-1029.
8. Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004;13:3161-3170.
9. Djarmati A, Svetel M, Momčilović D, Kostić V, Klein C. Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. Arch Neurol 2005;62:1641.
10. Chen DH, Matsushita M, Rainier S, et al. Presence of alanine-to-valine, substitution in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol 2004;61:1025-1029.
11. Przuntek H, Monninger P. Therapeutic aspects of kinesigenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type. J Neurol 1983;230-163-169.
12. Nordocci N, Lamperti E, Rumi V, Angelini L. Typical and atypical forms of paroxysman choreoathetosis. Dev Med Child Neurol 1989;31:670-681.
13. Byrne E, White O, Cook M. Familial dystonic choreoathetosis with myokymia: a steep responsive disorder. J Neurol Neurosurg Psychiatry 1991;54:1090-1092.