Ontology highlight
ABSTRACT:
SUBMITTER: Fujioka S
PROVIDER: S-EPMC4215194 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Fujioka Shinsuke S Ogaki Kotaro K Tacik Pawel M PM Uitti Ryan J RJ Ross Owen A OA Wszolek Zbigniew K ZK
Parkinsonism & related disorders 20140101
Parkinson's disease (PD) and multiple system atrophy (MSA) are progressive neurodegenerative disorders classified as synucleinopathies, which are defined by the presence of α-synuclein protein pathology. Genetic studies have identified a total of 18 PARK loci that are associated with PD. The SNCA gene encodes the α-synuclein protein. The first pathogenic α-synuclein p.A53T substitution was discovered in 1997; this was followed by the identification of p.A30P and p.E46K pathogenic substitutions i ...[more]