Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation

Journal of Clinical Neurology (Korea)

Volumn 10, Issue 1, 2014, Pages 50-54

  Youn, Jinyoung ^a   Kim, Ji Sun ^b   Lee, Munhyang ^a   Lee, Jeehun ^a   Roh, Hakjae ^b   Ki, Chang Seok ^a   Cho, Jin Whan ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Soonchunhyang University College of Medicine   (South Korea)

Author keywords

Chorea; Dyskinesia; Dystonia; Paroxysmal; Paroxysmal dyskinesia; PRRT2

Indexed keywords

EID: 84892495444     PISSN: 17386586     EISSN: 20055013     Source Type: Journal    
DOI: 10.3988/jcn.2014.10.1.50     Document Type: Article

References (18)

1. Goodenough DJ, Fariello RG, Annis BL, Chun RW. Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. Arch Neurol 1978;35:827-831.
2. Katschnig P, Schwingenschuh P, Chaudhary UJ, Edwards MJ, Lemieux L, Walker MC, et al. Paroxysmal limb dyskinesia induced by weight: an unusual case of cortical reflex seizures. Mov Disord 2011;26:2438-2439.
3. Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 1967;17:680-690.
4. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255.
5. Li J, Zhu X, Wang X, Sun W, Feng B, Du T, et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 2012;49:76-78.
6. Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, et al. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav 2013;12:234-240.
7. Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012;79:170-174.
8. van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, Verschuuren-Bemelmans C, et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 2012;79:777-784.
9. Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 2012;49:79-82.
10. Lee YC, Lee MJ, Yu HY, Chen C, Hsu CH, Lin KP, et al. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLoS One 2012;7:e38543.
11. Groffen AJ, Klapwijk T, van Rootselaar AF, Groen JL, Tijssen MA. Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. J Neurol 2013;260:93-99.
12. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004;63:2280-2287.
13. Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-160.
14. Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012;79:2115-2121.
15. Sheerin UM, Stamelou M, Charlesworth G, Shiner T, Spacey S, Valente EM, et al. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol 2013;260:656-660.
16. Tan LC, Methawasin K, Teng EW, Ng AR, Seah SH, Au WL, et al. Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. Eur J Neurol 2013. [Epub ahead of print]
17. Li HF, Chen WJ, Ni W, Wang KY, Liu GL, Wang N, et al. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Neurology 2013;80:1534-1535.
18. Houser MK, Soland VL, Bhatia KP, Quinn NP, Marsden CD. Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. J Neurol 1999;246:120-126.