Article
Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology.
Neurobiology of aging - 1 Sept 2014
Pasanen Petra, Myllykangas Liisa, Siitonen Maija, Raunio Anna, Kaakkola Seppo, Lyytinen Jukka, Tienari Pentti J, Pöyhönen Minna, Paetau Anders
Abstract excerpt
We describe the clinical, neuropathological, and genetic features of a Finnish patient with a novel α-synuclein (SNCA) mutation A53E. The patient was clinically diagnosed with atypical Parkinson's disease (PD) with age of onset at 36 years. In the neuropathological analysis performed at the age of 60 years, highly abundant SNCA pathology was observed throughout the brain and spinal cord showing features of...
Topics
- Adult
- Brain
- DNA-Binding Proteins
- Female
- Genetic Association Studies
- Humans
- Middle Aged
- Multiple System Atrophy
- Mutation
- Neurites
- Parkinson Disease
- Pedigree
- Phenotype
- Spinal Cord