کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10746180 1048752 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Parkinsonism & Related Disorders - Volume 18, Issue 5, June 2012, Pages 645-648
نویسندگان
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