Abstract
Twenty years ago Parkinson's disease (PD) was thought of as an environmentally determined neurodegenerative disease. It is now known that there are two autosomal dominant disease genes, alpha-synuclein and dardarin, and three genes responsible for autosomal recessive PD, parkin, DJ-1 and PINK-1. Although these gene mutations are not common, their identification has led to a new understanding of the pathogenesis of PD, and to a development in the understanding of the clinical and pathological definitions of PD and Lewy body disease. Ultimately, these advances may lead to the development of new disease-modifying therapies, but more immediately these discoveries have led to a more coherent view of the spectrum of PD and Lewy body diseases and to accurate genetic diagnosis and counselling for some families.
MeSH terms
-
Genetic Predisposition to Disease
-
Heterozygote
-
Humans
-
Intracellular Signaling Peptides and Proteins
-
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
-
Lewy Body Disease / genetics*
-
Lewy Body Disease / pathology
-
Mutation*
-
Nerve Tissue Proteins / genetics
-
Oncogene Proteins / genetics
-
Parkinson Disease / genetics*
-
Parkinson Disease / pathology
-
Protein Deglycase DJ-1
-
Protein Kinases / genetics
-
Protein Serine-Threonine Kinases / genetics
-
Synucleins
-
Ubiquitin-Protein Ligases / genetics
-
alpha-Synuclein
Substances
-
Intracellular Signaling Peptides and Proteins
-
Nerve Tissue Proteins
-
Oncogene Proteins
-
SNCA protein, human
-
Synucleins
-
alpha-Synuclein
-
Ubiquitin-Protein Ligases
-
parkin protein
-
Protein Kinases
-
LRRK2 protein, human
-
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
-
PTEN-induced putative kinase
-
Protein Serine-Threonine Kinases
-
PARK7 protein, human
-
Protein Deglycase DJ-1