Parkinsonism due to A53E α‐synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features

ABSTRACT Background SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The most recently identified mutation, p.Ala53Glu (A53E), has only been observed in Finland. The objectives of this study were to examine clinica...

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Veröffentlicht in:	Movement disorders 2018-12, Vol.33 (12), p.1950-1955
Hauptverfasser:	Picillo, Marina, Lizarraga, Karlo J., Friesen, Erik L., Chau, Hien, Zhang, Ming, Sato, Christine, Rooke, Grace, Munhoz, Renato P., Rogaeva, Ekaterina, Fraser, Paul E., Kalia, Suneil K., Kalia, Lorraine V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Basal ganglia biological age Brain diseases Central nervous system diseases Deoxyribonucleic acid DNA DNA methylation Epigenetics Fibrillation Fibrils Haplotypes Movement disorders Mutation Parkinson's disease Phosphorylation Point mutation protein aggregation Synuclein
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