Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies

K. J. Swoboda, B. W. Soong, C. McKenna, E. R.P. Brunt, M. Litt, J. F. Bale, T. Ashizawa, L. B. Bennett, A. M. Bowcock, E. S. Roach, D. Gerson, T. Matsuura, P. T. Heydemann, M. P. Nespeca, J. Jankovic, M. Leppert, L. J. Ptáček

Research output: Contribution to journalArticle

111 Citations (Scopus)

Abstract

Objective: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. Background: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified. Methods: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members. Results: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at (θ = 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity. Conclusions: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.

Original languageEnglish (US)
Pages (from-to)224-230
Number of pages7
JournalNeurology
Volume55
Issue number2
DOIs
StatePublished - Jul 25 2000
Externally publishedYes

Fingerprint

Seizures
Chromosomes, Human, Pair 16
Lod Score
Chorea
Information Storage and Retrieval
Dyskinesias
Movement Disorders
Clinical Studies
Familial paroxysmal dystonia
Haplotypes
Epilepsy
Interviews
Genes

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Swoboda, K. J., Soong, B. W., McKenna, C., Brunt, E. R. P., Litt, M., Bale, J. F., ... Ptáček, L. J. (2000). Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies. Neurology, 55(2), 224-230. https://doi.org/10.1212/WNL.55.2.224

Paroxysmal kinesigenic dyskinesia and infantile convulsions : Clinical and linkage studies. / Swoboda, K. J.; Soong, B. W.; McKenna, C.; Brunt, E. R.P.; Litt, M.; Bale, J. F.; Ashizawa, T.; Bennett, L. B.; Bowcock, A. M.; Roach, E. S.; Gerson, D.; Matsuura, T.; Heydemann, P. T.; Nespeca, M. P.; Jankovic, J.; Leppert, M.; Ptáček, L. J.

In: Neurology, Vol. 55, No. 2, 25.07.2000, p. 224-230.

Research output: Contribution to journalArticle

Swoboda, KJ, Soong, BW, McKenna, C, Brunt, ERP, Litt, M, Bale, JF, Ashizawa, T, Bennett, LB, Bowcock, AM, Roach, ES, Gerson, D, Matsuura, T, Heydemann, PT, Nespeca, MP, Jankovic, J, Leppert, M & Ptáček, LJ 2000, 'Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies', Neurology, vol. 55, no. 2, pp. 224-230. https://doi.org/10.1212/WNL.55.2.224
Swoboda KJ, Soong BW, McKenna C, Brunt ERP, Litt M, Bale JF et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies. Neurology. 2000 Jul 25;55(2):224-230. https://doi.org/10.1212/WNL.55.2.224
Swoboda, K. J. ; Soong, B. W. ; McKenna, C. ; Brunt, E. R.P. ; Litt, M. ; Bale, J. F. ; Ashizawa, T. ; Bennett, L. B. ; Bowcock, A. M. ; Roach, E. S. ; Gerson, D. ; Matsuura, T. ; Heydemann, P. T. ; Nespeca, M. P. ; Jankovic, J. ; Leppert, M. ; Ptáček, L. J. / Paroxysmal kinesigenic dyskinesia and infantile convulsions : Clinical and linkage studies. In: Neurology. 2000 ; Vol. 55, No. 2. pp. 224-230.
@article{cfe68718fdd34a6381a9507ddc723a5a,
title = "Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies",
abstract = "Objective: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. Background: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified. Methods: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members. Results: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at (θ = 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity. Conclusions: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.",
author = "Swoboda, {K. J.} and Soong, {B. W.} and C. McKenna and Brunt, {E. R.P.} and M. Litt and Bale, {J. F.} and T. Ashizawa and Bennett, {L. B.} and Bowcock, {A. M.} and Roach, {E. S.} and D. Gerson and T. Matsuura and Heydemann, {P. T.} and Nespeca, {M. P.} and J. Jankovic and M. Leppert and Pt{\'a}ček, {L. J.}",
year = "2000",
month = "7",
day = "25",
doi = "10.1212/WNL.55.2.224",
language = "English (US)",
volume = "55",
pages = "224--230",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

TY - JOUR

T1 - Paroxysmal kinesigenic dyskinesia and infantile convulsions

T2 - Clinical and linkage studies

AU - Swoboda, K. J.

AU - Soong, B. W.

AU - McKenna, C.

AU - Brunt, E. R.P.

AU - Litt, M.

AU - Bale, J. F.

AU - Ashizawa, T.

AU - Bennett, L. B.

AU - Bowcock, A. M.

AU - Roach, E. S.

AU - Gerson, D.

AU - Matsuura, T.

AU - Heydemann, P. T.

AU - Nespeca, M. P.

AU - Jankovic, J.

AU - Leppert, M.

AU - Ptáček, L. J.

PY - 2000/7/25

Y1 - 2000/7/25

N2 - Objective: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. Background: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified. Methods: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members. Results: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at (θ = 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity. Conclusions: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.

AB - Objective: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. Background: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified. Methods: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members. Results: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at (θ = 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity. Conclusions: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.

UR - http://www.scopus.com/inward/record.url?scp=0033868150&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033868150&partnerID=8YFLogxK

U2 - 10.1212/WNL.55.2.224

DO - 10.1212/WNL.55.2.224

M3 - Article

C2 - 10908896

AN - SCOPUS:0033868150

VL - 55

SP - 224

EP - 230

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 2

ER -