![]() Such targets may prove of general utility, and provide the basis for future therapeutics in most forms of PD, and, potentially, other synucleinopathies. ![]() The tangible discovery of a gene defect linked to PD in particular families was a ground-breaking discovery, as it opened the door to a flood of studies investigating the genetic base of the disorder, culminating in more recent genome-wide association studies (GWAS), that, remarkably, have made a full circle back to the origins of the molecular genetic era of PD it turns out that one of the major genes identified as linked to sporadic PD is none other than SNCA, the gene encoding for α-synuclein.Ī parallel story that has developed over the years is the abundant abnormal α-synuclein pathology that characterizes neuropathological specimens derived not only from PD patients, but also patients with other neurodegenerative conditions, collectively termed “synucleinopathies.” The ability to model abnormal α-synuclein accumulation in various cellular and animal models has led to the study of the consequences of such accumulation, to the deciphering of the molecular pathways involved, and to the identification of potential therapeutic targets. Although familial contribution to the disease was discussed by some, it was felt to be minor at best by most. ![]() The first link of Parkinson's disease (PD) to α-synuclein was also the first conclusive demonstration of a genetic defect leading to PD, and thus has historical and conceptual value.
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