Annals of Indian Academy of Neurology
CASE REPORT
Year
: 2014  |  Volume : 17  |  Issue : 4  |  Page : 459--462

Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient


S Prabhakara1, Kolandaswamy Anbazhagan2 
1 Department of Research and Development, Genomics and Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar; Central Research Lab, Raja Rajeswari Medical College and Hospital, Bangalore, Karnataka, India
2 INSERM U844, Institute for Neurosciences of Montpellier, Hospital St. Eloi, 34295 Montpellier, France

Correspondence Address:
S Prabhakara
Central Research Laboratory, Raja Rajeswari Medical College and Hospital, Mysore Road, Bangalore - 560 074, Karnataka
India

Paroxysmal kinesigenic dyskinesia (PKD) is an abnormal involuntary movement that is episodic or intermittent, with sudden onset, and the attacks are induced by sudden movement. Mutations in proline-rich transmembrane protein 2 (PRRT2) gene have been implicated in the cause of this disorder. This study presents a case of PKD on the basis of clinical findings supported and evidences obtained through a mutational analysis. Sequencing of all the exons of PRRT2 gene revealed a frameshift mutation (p.R217Pfs*8) in exon 2 and a novel transition mutation (c.244C > T) in 5«SQ»-untranslated region (UTR). Though mutations in PRRT2 gene are well-established in PKD, this study for the first time presents a novel transition mutation in the exon 2 region.


How to cite this article:
Prabhakara S, Anbazhagan K. Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient.Ann Indian Acad Neurol 2014;17:459-462


How to cite this URL:
Prabhakara S, Anbazhagan K. Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient. Ann Indian Acad Neurol [serial online] 2014 [cited 2021 Oct 27 ];17:459-462
Available from: https://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=4;spage=459;epage=462;aulast=Prabhakara;type=0