TY - JOUR
T1 - Paroxysmal kinesigenic dyskinesia
T2 - Cortical or non-cortical origin
AU - van Strien, Teun W.
AU - van Rootselaar, Anne-Fleur
AU - Hilgevoord, Anthony A. J.
AU - Linssen, Wim H. J. P.
AU - Groffen, Alexander J. A.
AU - Tijssen, Marina A. J.
N1 - Funding Information: Zabih Abbas is acknowledged for technical assistance. This study was supported by the Prinses Beatrix Foundation (project WAR08-07 to Groffen).
PY - 2012/6
Y1 - 2012/6
N2 - Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-cortical origin. A combined familial trait of PKD and benign familial infantile seizures has been reported as the infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome. Here, we report a family diagnosed with ICCA syndrome with an Arg217STOP mutation. The index patient showed interictal EEG focal changes compatible with paroxysmal dystonic movements of his contralateral leg. This might support cortical involvement in PKD.
AB - Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-cortical origin. A combined familial trait of PKD and benign familial infantile seizures has been reported as the infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome. Here, we report a family diagnosed with ICCA syndrome with an Arg217STOP mutation. The index patient showed interictal EEG focal changes compatible with paroxysmal dystonic movements of his contralateral leg. This might support cortical involvement in PKD.
KW - Epilepsy
KW - Focal EEG changes
KW - Genetics
KW - ICCA
KW - PKD
UR - http://www.scopus.com/inward/record.url?scp=84861202770&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.parkreldis.2012.03.006
DO - https://doi.org/10.1016/j.parkreldis.2012.03.006
M3 - Article
C2 - 22464846
SN - 1353-8020
VL - 18
SP - 645
EP - 648
JO - Parkinsonism & Related Disorders
JF - Parkinsonism & Related Disorders
IS - 5
ER -
