title: Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
abstract: OBJECTIVE
  We aimed to investigate the clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype-phenotype correlation of PKD.
  
  
  METHODS
  We analyzed clinical manifestations and conducted PRRT2 screening in 110 patients with PKD. Clinical data were compared between 91 probands with and without PRRT2 mutations.
  
  
  RESULTS
  Among the enrolled participants (45 from 26 families, 65 sporadic cases), 8 PRRT2 mutations were detected in 20 PKD families (76.9%) and 14 sporadic cases (21.5%), accounting for 37.4% (34/91) of the study population. Five mutations (c.649dupC, c.649delC, c.487C>T, c.573dupT, c.796C>T) were already reported, while 3 mutations (c.787C>T, c.797G>A, c.931C>T) were undocumented. A patient harboring a homozygous c.931C>T mutation was shown to have inherited the mutation via uniparental disomy. Compared with non-PRRT2 mutation carriers, the PRRT2 mutation carriers were younger at onset, experienced longer attacks, and tended to present with complicated PKD, combined phenotypes of dystonia and chorea, and a positive family history. A good response was shown in 98.4% of the patients prescribed with carbamazepine.
  
  
  CONCLUSIONS
  PRRT2 mutations are common in patients with PKD and are significantly associated with an earlier age at onset, longer duration of attacks, a complicated form of PKD, combined phenotypes of dystonia and chorea, and a tendency for a family history of PKD. A patient with uniparental disomy resulting in a homozygous c.931C>T mutation is identified in the present study. Carbamazepine is the first-choice drug for patients with PKD, but an individualized treatment regimen should be developed.
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Huang
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Tian
authors.initials: T
authors.lastname: Wang
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Jun-Ling
authors.initials: JL
authors.lastname: Wang
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Liu
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Xiang-Qian
authors.initials: XQ
authors.lastname: Che
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Li
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Mao
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Zhang
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Guang-Hui
authors.initials: GH
authors.lastname: Bi
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wu
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Jing-Yi
authors.initials: JY
authors.lastname: Wang
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China.
authors.forename: Jun-Yi
authors.initials: JY
authors.lastname: Shen
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China. chen_sd@medmail.com.cn caoli2000@yeah.net bstang7398@163.com.
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China. chen_sd@medmail.com.cn caoli2000@yeah.net bstang7398@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Cao
authors.affiliation: From the Department of Neurology and Institute of Neurology (X.-J.H., T.W., X.-L.L., L.W., Y.Z., J.-Y.W., J.-Y.S., L.C., S.-D.C.), Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Department of Neurology (J.-L.W., X.-Q.C., J.L., X.M., B.-S.T.), Xiangya Hospital, Central South University, Changsha, Hunan Province; Department of Neurology (M.Z.), Huainan First People's Hospital affiliated to Bengbu Medical College, Huainan, Anhui Province; and Department of Neurology (G.-H.B.), Dongying People's Hospital, Dongying, Shandong Province, China. chen_sd@medmail.com.cn caoli2000@yeah.net bstang7398@163.com.
authors.forename: Sheng-Di
authors.initials: SD
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D004421:Dystonia / Q000150:complications / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012720:Severity of Illness Index; D013997:Time Factors; D024182:Uniparental Disomy; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human