Premium
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2
Author(s) -
Hernandez Dena G.,
PaisánRuíz Coro,
McInerneyLeo Aideen,
Jain Shushant,
MeyerLindenberg Andreas,
Evans E. Whitney,
Berman Karen F.,
Johnson Janel,
Auburger Georg,
Schäffer Alejandro A.,
Lopez Grisel J.,
Nussbaum Robert L.,
Singleton Andrew B.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20401
Subject(s) - lrrk2 , positron emission tomography , parkinson's disease , disease , medicine , mutation , kinase , leucine rich repeat , genetics , gene , biology , nuclear medicine
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. Ann Neurol 2005;57:453–456