Open Access Research article

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

Peter Hedera1, Jianfeng Xiao2, Andreas Puschmann3, Dragana Momčilović4, Steve W Wu5 and Mark S LeDoux2*

Author Affiliations

1 Department of Neurology, Vanderbilt University, Nashville, TN, USA

2 Departments of Neurology, and Anatomy and Neurobiology, University of Tennessee Health Science Center, 855 Monroe Avenue, Suite 415 Link Building, Memphis, TN, 38163, USA

3 Department of Neurology, Skåne University Hospital and Department of Neurology, Lund University, Lund, Sweden

4 Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia

5 Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA

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BMC Neurology 2012, 12:93  doi:10.1186/1471-2377-12-93

Published: 18 September 2012



Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family.


Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia.


One patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in PRRT2 (c.649dupC, p.R217Pfs*8). Another African-American family was found to have a novel mutation (c.776dupG, p.E260*). Both of these variants are likely to cause loss-of-function via nonsense-mediated decay of mutant PRRT2 transcripts. All affected individuals had classic paroxysmal kinesigenic dyskinesia phenotypes.


Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups.

PKD; PRRT2; African-American; ICCA; Hotspot mutation