A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease

Mutations in the glucocerebrosidase gene (GBA1) cause Gaucher disease (GD) and are the most common genetic risk factor for the development of Parkinson’s disease (PD). Here, we present a 12-year follow-up study of a male with GD and PD (diagnosed 24years ago), which PD preceded the clinical manifest...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	JIMD Reports - Case and Research Reports, 2011/3 2011/3, 2012-01, Vol.3, p.53-57
Hauptverfasser:	Machaczka, Maciej, Arce, Martin Paucar, Rucinska, Malgorzata, Yoshitake, Takashi, Kehr, Jan, Jurczak, Wojciech, Skotnicki, Aleksander B., Månsson, Jan-Erik, Tylki-Szymanska, Anna, Svenningsson, Per
Format:	Artikel
Sprache:	eng
Schlagworte:	Gaucher disease Glucocerebrosidase Medicin och hälsovetenskap Movement disorders Parkinson’s disease Synucleinopathies
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!