公开(公告)号：EP1802749A2

公开(公告)日：2007-07-04

申请号：EP05797320.8

申请日：2005-09-27

申请人： GSF-FORSCHUNGSZENTRUM FÜR UMWELT UND GESUNDHEIT, GMBH ,  Eberhard Karls Universität Tübingen ,  Mayo Clinic

发明人： MEITINGER, Thomas ,  STROM, Tim, Matthias ,  BISKUP, Saskia ,  UEFFING, Marius ,  KREMMER, Elisabeth ,  GLOECKNER, Christian, J. ,  GASSER, Thomas ,  LEITNER, Petra ,  ASMUS, Friedrich ,  PATENGE, Nadja ,  ZIMPRICH, Alexander ,  FARRER, Matthew, J. ,  KACHERGUS, Jennifer, M. ,  LINCOLN, Sara, J. ,  HULIHAN, Mary, M. ,  WSZOLEK, Zibigniew ,  UITTI, Ryan

IPC分类号： C12N9/12

CPC分类号： C12N9/1205

摘要： The present invention refers to a newly discovered gene named KASPP for Kinase Associated with Parkinsonism with Pleiomorphic Pathology or alternatively named LRRK2 for Leucine-Rich Repeat Kinase 2, its production, biochemical characterization and use for the detection and treatment of neurodegenerative disorders, such as Parkinson disease (PD) including, without limitation, sporadic PD, Alzheimer disease (AD), amyotrophic lateral sclerosis (ALS), and other synucleinopathies and/or tauopathy as well as several polymorphisms and mutations in the KASPP/LRRK2 gene segregated with PD.

公开(公告)号：EP1802749B1

公开(公告)日：2012-08-22

申请号：EP05797320.8

申请日：2005-09-27

申请人： Helmholtz Zentrum München Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH) ,  Eberhard Karls Universität Tübingen ,  MAYO FOUNDATION FOR MEDICAL EDUCATION AND RESEARCH

发明人： MEITINGER, Thomas ,  STROM, Tim, Matthias ,  BISKUP, Saskia ,  UEFFING, Marius ,  KREMMER, Elisabeth ,  GLOECKNER, Christian, J. ,  GASSER, Thomas ,  LEITNER, Petra ,  ASMUS, Friedrich ,  PATENGE, Nadja ,  ZIMPRICH, Alexander ,  FARRER, Matthew, J. ,  KACHERGUS, Jennifer, M. ,  LINCOLN, Sara, J. ,  HULIHAN, Mary, M. ,  WSZOLEK, Zibigniew ,  UITTI, Ryan

IPC分类号： C12N9/12

CPC分类号： C12N9/1205

摘要： The present invention refers to a newly discovered gene named KASPP for Kinase Associated with Parkinsonism with Pleiomorphic Pathology or alternatively named LRRK2 for Leucine-Rich Repeat Kinase 2, its production, biochemical characterization and use for the detection and treatment of neurodegenerative disorders, such as Parkinson disease (PD) including, without limitation, sporadic PD, Alzheimer disease (AD), amyotrophic lateral sclerosis (ALS), and other synucleinopathies and/or tauopathy as well as several polymorphisms and mutations in the KASPP/LRRK2 gene segregated with PD.