Nosology of Parkinson's disease: looking for the way out of a quagmire.
The discovery of SNCA mutations pathogenic for autosomal-dominant Lewy body Parkinson's disease (PD) in 1997 heralded a revolution in understanding the molecular and genetic basis of PD. Indeed, it now is clear that Lewy body PD is one of many neurodegenerative parkinsonian disorders that result from nigrostriatal degeneration caused by diverse mechanisms. However, to capitalize on these new insights and facilitate efforts to improve the diagnosis and therapy of neurodegenerative movement disorders, it is timely to define a nosology for these diseases that is based on their genetic and molecular underpinnings, as proposed here.
Forman
Mark S
MS
Department of Pathology and Laboratory Medicine, Institute on Aging, University of Pennsylvania, Philadelphia, PA 19104, USA.
Lee
Virginia M-Y
VM
Trojanowski
John Q
JQ
D000818:Animals; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000145:classification* / Q000235:genetics*; D013378:Substantia Nigra / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D051843:Synucleins; D009626:Terminology as Topic; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein