Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia

Bruno, Michiko Kimura; Hallett, Mark; Gwinn‐Hardy, Katrina; Sorensen, B.; Considine, Elaine; Tucker, Samuel M.; Lynch, David R.; Mathews, Katherine D.; Swoboda, Kathryn J.; Harris, Juliette; Soong, Bing Wen; Ashizawa, Tetsuo; Jankovic, Joseph; Renner, David; Fu, Ying Hui; Ptáček, Louis J.

doi:10.1212/01.wnl.0000147298.05983.50

Cited by 339 publications

(378 citation statements)

References 29 publications

Supporting

Mentioning

364

Contrasting

Unclassified

Order By: Relevance

“…PKD attacks consist of any combination of dystonic, choreoathetotic and ballistic components, often occur daily and frequently more than once a day, and usually last from a few seconds to 1-2 min. [1][2][3] Age of onset is usually during early adolescence. Most of PKD cases are usually inherited as an autosomal dominant trait, but many sporadic cases have also been reported.…”

Section: Introductionmentioning

confidence: 99%

“…Most of PKD cases are usually inherited as an autosomal dominant trait, but many sporadic cases have also been reported. [2][3][4] In our previous study, we performed a genome-wide linkage and haplotype analysis and defined disease locus within the pericentromeric region of chromosome 16. 1,5 Subsequently, we performed mutation analysis on 229 genes between D16S3131 and D16S503; however, we failed to identify the causative gene.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

et al. 2012

View full text Add to dashboard Cite

Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C4T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

et al. 2012

View full text Add to dashboard Cite

show abstract

“…Attacks usually commence during childhood or early adulthood, typically lasting a few seconds to a few minutes, and they can occur up to 100 times daily. Attacks usually respond to low-dose carbamazepine [1]. Mutations in PRRT2 have been identified as a cause of autosomal dominant PKD [2] and replicated in other studies [3][4][5][6][7].…”

mentioning

confidence: 81%

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Sheerin¹,

Stamelou²,

Charlesworth³

et al. 2012

J Neurol

View full text Add to dashboard Cite

“…Evidence for shared pathophysiologic mechanisms underlying the concurrence of benign infantile convulsions (IC) and of paroxysmal kinesigenic dyskinesia (PKD) in the same patients or families was obtained more than 15 years ago. 1,2 This defined the autosomal dominant PKD/IC syndrome, 3 formerly known as ICCA (infantile convulsions and paroxysmal choreoathetosis, MIM 602066). 1 IC (or benign infantile seizures) are nonfebrile seizures with onset between 3 and 12 months of age and have a favorable outcome.…”

mentioning

confidence: 99%

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

et al. 2012

Self Cite

View full text Add to dashboard Cite

Objective: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported. In order to explore the mutational and clinical spectra, we analyzed 34 additional families with either typical PKD/IC or PKD/IC with migraine.Methods: We performed Sanger sequencing of all PRRT2 coding exons and of exon-intron boundaries in the probands and in their relatives whenever appropriate.Results: Two known and 2 novel PRRT2 mutations were detected in 18 families. The p.R217Pfs*8 recurrent mutation was found in z50% of typical PKD/IC, and the unreported p.R145Gfs*31 in one more typical family. PRRT2 mutations were also found in PKD/IC with migraine: p.R217Pfs*8 cosegregated with PKD associated with HM in one family, and was also detected in one IC patient having migraine with aura, in related PKD/IC familial patients having migraine without aura, and in one sporadic migraineur with abnormal MRI. Previously reported p.R240X was found in one patient with PKD with migraine without aura. The novel frameshift p.S248Afs*65 was identified in a PKD/IC family member with IC and migraine with aura. Conclusions:We extend the spectrum of PRRT2 mutations and phenotypes to HM and to other types of migraine in the context of PKD/IC, and emphasize the phenotypic pleiotropy seen in patients with PRRT2 mutations. Neurology There is a long known relationship between human epilepsies and other paroxysmal brain disorders, such as migraine, episodic ataxia, or paroxysmal dyskinesia-the occurrence of involuntary movements, whether spontaneous or triggered by various types of stimuli. Evidence for shared pathophysiologic mechanisms underlying the concurrence of benign infantile convulsions (IC) and of paroxysmal kinesigenic dyskinesia (PKD) in the same patients or families was obtained more than 15 years ago.

show abstract

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia

Abstract: The diagnosis of idiopathic paroxysmal kinesigenic dyskinesia (PKD) can be made based on historical features. The correct diagnosis has implications for treatment and prognosis, and the diagnostic scheme may allow better focus in the search for the PKD gene(s).

Cited by 339 publications

References 29 publications

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

Contact Info

Product

Resources

About