Clinical and pathologic features of families with LRRK2-associated Parkinson's disease.
The etiology for Parkinson's disease (PD) remains unknown. Genetic causes have been identified with several distinct mutations. Recently, 9 mutations involving a novel gene, leucine-rich repeat kinase 2 (LRRK2), have been identified as the cause of autosomal dominant PD in kindreds, with some of them previously linked to the PARK8 locus on chromosome 12. LRRK2 mutations are relatively common genetic causes of familial and sporadic PD. In addition, these mutations have been identified in diverse populations. The clinical and pathologic features of LRRK2-associated PD are indistinguishable from idiopathic PD; however, considerable clinical and pathologic variability exists even among kindreds. This short review highlights the clinical and pathologic features in LRRK2-associated parkinsonism.
Whaley
N R
NR
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Uitti
R J
RJ
Dickson
D W
DW
Farrer
M J
MJ
Wszolek
Z K
ZK
D017668:Age of Onset; D001921:Brain / Q000473:pathology; D005190:Family; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D010300:Parkinson Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D049268:Positron-Emission Tomography; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases