CareLit · DOI-Nachweis · Aktuelle Neurologie
Novel ATP1A3 mutation in a sporadic RDP patient with partial benefit from deep brain stimulation
DOI 10.1055/s-2007-987774
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Autor:innenC Kamm, W Fogel, T Wächter, K Schweitzer, D Berg, D Freudenstein, T Gasser
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Rapid Onset Dystonia-Parkinsonism (RDP) is a very rare, autosomal dominantly inherited movement disorder, characterized by abrupt or subacute onset of both dystonic symptoms and parkinsonism with prominent bulbar involvement. Recently, six missense mutations in highly conserved regions of the ATP1A3 gene have been identified in four families and three sporadic patients. This gene encodes a Na+/K+-Pase responsible fo…
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Zitierempfehlung
C Kamm, W Fogel, T Wächter, K Schweitzer, D Berg, D Freudenstein, T Gasser (2007) Novel ATP1A3 mutation in a sporadic RDP patient with partial benefit from deep brain stimulation. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987774
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