Familial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy (FAPED)
A Storch, K Brockmann, A Pekrun, E Kraft, B Walter, BJ Krause, S Reske, K Tatsch, G Grön, HJ Gartner, W Sauermann, HJ Christen, AC Ludolph, F Lehmann-Horn, H Lerche · Aktuelle Neurologie · 2004 · Heft 09
Bibliografische Angaben
Zusammenfassung
Neuroacanthocytoses are inherited disorders with abnormal erythrocytes and neurological symptoms. Paroxysmal dyskinesias are characterized by attacks of involuntary movements classified as kinesiogenic, non-kinesiogenic or exertion-induced. We describe a novel dominant disease in a three-generation family with four affected individuals presenting with acanthocytosis, paroxysmal exertion-induced dyskinesias and epilepsy. The syndrome was characterized by extensive clinical work-up, neuroimaging, testing of erythrocytes and fibroblasts and genetic studies. The 33-year-old index patient and his mother complained ab…
