Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large polish kindred

European Neurology

Volumn 61, Issue 1, 2008, Pages 39-41

  Friedman, Andrzej ^a   Zakrzewska Pniewska, Beata ^a   Domitrz, Izabela ^a   Lee, Hsien Yang ^b   Ptacek, Louis ^b   Kwiecinski, Hubert ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Clinical genetics; Parkinsonism; Paroxysmal non kinesigenic dyskinesia

Indexed keywords

BENSERAZIDE; LEVODOPA; DOPAMINE RECEPTOR STIMULATING AGENT; MUSCLE PROTEIN; PNKD PROTEIN, HUMAN; UNCLASSIFIED DRUG;

AGED; AGING; ARTICLE; CASE REPORT; CHILDHOOD; DISEASE SEVERITY; DYSKINESIA; FAMILY; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; MENOPAUSE; MORBIDITY; MYOFIBRILLOGENESIS REGULATOR 1; PARKINSON DISEASE; PAROXYSMAL NON KINESIGENIC DYSKINESIA; POLAND; PREGNANCY; PRIORITY JOURNAL; SYMPTOM; TREATMENT RESPONSE; CAUCASIAN; CHOREA; GENETICS; PATHOPHYSIOLOGY; PEDIGREE;

AGED; CHOREA; DOPAMINE AGENTS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; LEVODOPA; MALE; MENOPAUSE; MUSCLE PROTEINS; PEDIGREE; POLAND; PREGNANCY;

EID: 54249160479     PISSN: 00143022     EISSN: 14219913     Source Type: Journal    
DOI: 10.1159/000165348     Document Type: Article

References (11)

1. Mount LA, Reback S: Familial paroxysmal choreoathetosis. Arch Neurol Psychiatry 1940; 44: 841-847.
2. Dermikiran M, Jankovic J: Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38: 571-579.
3. 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 Gen 2004; 13: 3161-3170. (Pubitemid 40045268)
4. Chen DH, Matsushita M, Rainier S, et al: Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol 2005; 62: 597-600. (Pubitemid 40489892)
5. Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, et al: Genotypephenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007; 68: 1782-1789. (Pubitemid 46791390)
6. Stefanova E, Djarmati A, Momilovi D, et al: Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with myofibrillogenesis regulator 1 gene mutation. Mov Disord 2006; 21: 2010-2015. (Pubitemid 44848959)
7. Jourdain S, Morissette M, Morin N, Di Paolo T: Oestrogens prevent loss of dopamine transporter (DAT) and vesicular monoamine transporter (VMAT2) in substantia nigra of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine mice. J Neuroendocrinol 2005; 17: 509-517. (Pubitemid 40990692)
8. Currie LJ, Harrison MB, Trugman JM, Bennett JP, Wooten GF: Postmenopausal estrogen use affects risk for Parkinson disease. Archi Neurol 2004; 61: 886-888. (Pubitemid 38747327)
9. Shulman LM: Is there a connection between estrogen and Parkinson's disease? Parkinsonism Relat Disord 2002; 8: 289-295. (Pubitemid 34520453)
10. Gamboa ET, Issacs G, Harter DH: Chorea associated with oral contraceptive therapy. Arch Neurol 1971; 25: 112-114.
11. Herzog AG: Hormonal influences on spasmodic torticollis: a case report. Mov Disord 1993; 8: 118-119. (Pubitemid 23039243)