| Literature DB >> 15732108 |
Dena G Hernandez1, Coro Paisán-Ruíz, Aideen McInerney-Leo, Shushant Jain, Andreas Meyer-Lindenberg, E Whitney Evans, Karen F Berman, Janel Johnson, Georg Auburger, Alejandro A Schäffer, Grisel J Lopez, Robert L Nussbaum, Andrew B Singleton.
Abstract
We have recently identified mutations in a gene leucine-rich repeat kinase-2 (LRRK2), which cause autosomal dominant Parkinson's disease. Here, we describe two families with autosomal dominant Parkinson's disease caused by a LRRK2 G2019S mutation. We present here a clinical description of patients, including 6-(18)F-fluoro-L-dopa positron emission tomography and discuss the potential implications of this mutation, which alters a conserved residue in a domain required for kinase activation.Entities:
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Year: 2005 PMID： 15732108 DOI： 10.1002/ana.20401
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422