Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
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.
Hernandez
Dena G
DG
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA.
Paisán-Ruíz
Coro
C
McInerney-Leo
Aideen
A
Jain
Shushant
S
Meyer-Lindenberg
Andreas
A
Evans
E Whitney
EW
Berman
Karen F
KF
Johnson
Janel
J
Auburger
Georg
G
Schäffer
Alejandro A
AA
Lopez
Grisel J
GJ
Nussbaum
Robert L
RL
Singleton
Andrew B
AB
D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D004252:DNA Mutational Analysis / Q000379:methods; D004295:Dihydroxyphenylalanine / Q000031:analogs & derivatives* / Q000494:pharmacology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005998:Glycine / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000000981:diagnostic imaging* / Q000235:genetics; D010375:Pedigree; D049268:Positron-Emission Tomography / Q000379:methods; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics
C043437:fluorodopa F 18; D012694:Serine; D004295:Dihydroxyphenylalanine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine