Abstract
Background. Paroxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of involuntary movements triggered by sudden voluntary movements. Methods. We describe the clinical, polygraphic, and genetic features of an Italian family with paroxysmal kinesigenic dyskinesia. Results. Paroxysmal kinesigenic dyskinesia manifested as brief choreoathetosic-dystonic attacks precipitated by sudden movements, varying in severity and frequency, amongst the four affected family members. The disorder follows an autosomal dominant transmission and affects female members. Mutation of SLC2A1, MR1, CACNA1A, and ATP1A2 genes was excluded by direct sequencing. Mutation analysis of the PRRT2 gene revealed a single nucleotide duplication, c.649dupC, resulting in the frameshift mutation p.Arg217Profs*8 in all affected members. Conclusion. Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy.We describe a family with paroxysmal kinesigenic dyskinesia associated with PRRT2 gene mutation, mild intrafamilial clinical heterogeneity, and benign course.
| Original language | English |
|---|---|
| Pages (from-to) | 123-127 |
| Number of pages | 5 |
| Journal | Epileptic Disorders |
| Volume | 15 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jun 2013 |
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Keywords
- Female prevalence
- Paroxysmal kinesigenic dyskinesia
- PRRT2
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. / Fabbri, Margherita; Marini, Carla; Bisulli, Francesca; Di Vito, Lidia; Elia, Antonio; Guerrini, Renzo; Mei, Davide; Tinuper, Paolo.
In: Epileptic Disorders, Vol. 15, No. 2, 06.2013, p. 123-127.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation
AU - Fabbri, Margherita
AU - Marini, Carla
AU - Bisulli, Francesca
AU - Di Vito, Lidia
AU - Elia, Antonio
AU - Guerrini, Renzo
AU - Mei, Davide
AU - Tinuper, Paolo
PY - 2013/6
Y1 - 2013/6
N2 - Background. Paroxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of involuntary movements triggered by sudden voluntary movements. Methods. We describe the clinical, polygraphic, and genetic features of an Italian family with paroxysmal kinesigenic dyskinesia. Results. Paroxysmal kinesigenic dyskinesia manifested as brief choreoathetosic-dystonic attacks precipitated by sudden movements, varying in severity and frequency, amongst the four affected family members. The disorder follows an autosomal dominant transmission and affects female members. Mutation of SLC2A1, MR1, CACNA1A, and ATP1A2 genes was excluded by direct sequencing. Mutation analysis of the PRRT2 gene revealed a single nucleotide duplication, c.649dupC, resulting in the frameshift mutation p.Arg217Profs*8 in all affected members. Conclusion. Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy.We describe a family with paroxysmal kinesigenic dyskinesia associated with PRRT2 gene mutation, mild intrafamilial clinical heterogeneity, and benign course.
AB - Background. Paroxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of involuntary movements triggered by sudden voluntary movements. Methods. We describe the clinical, polygraphic, and genetic features of an Italian family with paroxysmal kinesigenic dyskinesia. Results. Paroxysmal kinesigenic dyskinesia manifested as brief choreoathetosic-dystonic attacks precipitated by sudden movements, varying in severity and frequency, amongst the four affected family members. The disorder follows an autosomal dominant transmission and affects female members. Mutation of SLC2A1, MR1, CACNA1A, and ATP1A2 genes was excluded by direct sequencing. Mutation analysis of the PRRT2 gene revealed a single nucleotide duplication, c.649dupC, resulting in the frameshift mutation p.Arg217Profs*8 in all affected members. Conclusion. Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy.We describe a family with paroxysmal kinesigenic dyskinesia associated with PRRT2 gene mutation, mild intrafamilial clinical heterogeneity, and benign course.
KW - Female prevalence
KW - Paroxysmal kinesigenic dyskinesia
KW - PRRT2
UR - http://www.scopus.com/inward/record.url?scp=84880503124&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84880503124&partnerID=8YFLogxK
U2 - 10.1684/epd.2013.0569
DO - 10.1684/epd.2013.0569
M3 - Article
C2 - 23771590
AN - SCOPUS:84880503124
VL - 15
SP - 123
EP - 127
JO - Epileptic Disorders
JF - Epileptic Disorders
SN - 1294-9361
IS - 2
ER -